Publications:

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The Role of Iron in Atherosclerosis in Apolipoprotein E Deficient Mice.

Frontiers In Cardiovascular Medicine

Ma, Juan J; Ma, Hui-Min HM; Shen, Meng-Qi MQ; Wang, Yuan Yuan YY; Bao, Yu-Xin YX; Liu, Yong Y; Ke, Ya Y; Qian, Zhong-Ming ZM

Publication Date: 2022

Variant appearance in text: HFE: H63D

PubMed Link: 35669479

Variant Present in the following documents:

• Main text
• fcvm-09-857933.pdf

View BVdb publication page

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HLA-A*03, the hemochromatosis ancestral haplotype, and phenotypes of referred hemochromatosis probands with HFE p.C282Y homozygosity.

Hereditas

Barton, James C JC; Barton, J Clayborn JC; Acton, Ronald T RT

Publication Date: 2022-06-06

Variant appearance in text: HFE: H63D

PubMed Link: 35659379

Variant Present in the following documents:

• Main text
• 41065_2022_Article_237.pdf

View BVdb publication page

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Genetic support of a causal relationship between iron status and atrial fibrillation: a Mendelian randomization study.

Genes & Nutrition

Wang, Tianyi T; Cheng, Jun J; Wang, Yanggan Y

Publication Date: 2022-05-30

Variant appearance in text: rs1799945

PubMed Link: 35637428

Variant Present in the following documents:

• Main text
• 12263_2022_Article_708.pdf

View BVdb publication page

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Transmission Distortion of MCT1 rs1049434 among Polish Elite Athletes.

Genes

Dzitkowska-Zabielska, Magdalena M; Bojarczuk, Aleksandra A; Borczyk, Małgorzata M; Piechota, Marcin M; Korostyński, Michał M; Adamczyk, Jakub Grzegorz JG; Trybek, Grzegorz G; Massidda, Myosotis M; Cięszczyk, Paweł P

Publication Date: 2022-05-12

Variant appearance in text: HFE: H63D; rs1799945

PubMed Link: 35627255

Variant Present in the following documents:

• Main text
• genes-13-00870.pdf

View BVdb publication page

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Genome-wide association and Mendelian randomization study of blood copper levels and 213 deep phenotypes in humans.

Communications Biology

Yang, Wenjun W; Li, Longman L; Feng, Xiuming X; Cheng, Hong H; Ge, Xiaoting X; Bao, Yu Y; Huang, Lulu L; Wang, Fei F; Liu, Chaoqun C; Chen, Xing X; Mo, Zengnan Z; Yang, Xiaobo X

Publication Date: 2022-05-02

Variant appearance in text: rs1799945

PubMed Link: 35501403

Variant Present in the following documents:

• 42003_2022_Article_3351.pdf

View BVdb publication page

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Case report: DSP truncation variant p. R1951X leads to arrhythmogenic left ventricular cardiomyopathy.

European Heart Journal. Case Reports

Chen, Vincent V; Knight, Bradley P BP; McNally, Elizabeth M EM

Publication Date: 2022-03

Variant appearance in text: HFE: H63D

PubMed Link: 35474678

Variant Present in the following documents:

• ytac105.pdf

View BVdb publication page

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Advances in our understanding of the molecular pathogenesis of necrotizing enterocolitis.

Bmc Pediatrics

Cai, Xue X; Golubkova, Alena A; Hunter, Catherine J CJ

Publication Date: 2022-04-25

Variant appearance in text: rs1799945

PubMed Link: 35468817

Variant Present in the following documents:

• 12887_2022_Article_3277.pdf

View BVdb publication page

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Association between Iron Intake and Progression of Knee Osteoarthritis.

Nutrients

Wu, Limin L; Si, Haibo H; Zeng, Yi Y; Wu, Yuangang Y; Li, Mingyang M; Liu, Yuan Y; Shen, Bin B

Publication Date: 2022-04-18

Variant appearance in text: HFE: H63D

PubMed Link: 35458236

Variant Present in the following documents:

• nutrients-14-01674.pdf

View BVdb publication page

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Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.

International Journal Of Molecular Sciences

Alvarez-Mora, Maria Isabel MI; Blanco-Palmero, Victor Antonio VA; Quesada-Espinosa, Juan Francisco JF; Arteche-Lopez, Ana Rosa AR; Llamas-Velasco, Sara S; Palma Milla, Carmen C; Lezana Rosales, Jose Miguel JM; Gomez-Manjon, Irene I; Hernandez-Lain, Aurelio A; Jimenez Almonacid, Justino J; Gil-Fournier, Belén B; Ramiro-León, Soraya S; González-Sánchez, Marta M; Herrero-San Martín, Alejandro Octavio AO; Pérez-Martínez, David Andrés DA; Gómez-Tortosa, Estrella E; Carro, Eva E; Bartolomé, Fernando F; Gomez-Rodriguez, Maria Jose MJ; Sanchez-Calvin, María Teresa MT; Villarejo-Galende, Alberto A; Moreno-Garcia, Marta M

Publication Date: 2022-04-11

Variant appearance in text: HFE: H63D

PubMed Link: 35457051

Variant Present in the following documents:

• ijms-23-04230.pdf

View BVdb publication page

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Deciphering the Role of the rs2651899, rs10166942, and rs11172113 Polymorphisms in Migraine: A Meta-Analysis.

Medicina (Kaunas, Lithuania)

Siokas, Vasileios V; Liampas, Ioannis I; Aloizou, Athina-Maria AM; Papasavva, Maria M; Bakirtzis, Christos C; Lavdas, Eleftherios E; Liakos, Panagiotis P; Drakoulis, Nikolaos N; Bogdanos, Dimitrios P DP; Dardiotis, Efthimios E

Publication Date: 2022-03-29

Variant appearance in text: HFE: H63D

PubMed Link: 35454329

Variant Present in the following documents:

• medicina-58-00491.pdf

View BVdb publication page

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Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene.

Case Reports In Pediatrics

Moreno-Risco, María-Belén MB; Méndez, Manuel M; Moreno-Carralero, María-Isabel MI; López-Moreno, Ana-María AM; Vagace-Valero, José-Manuel JM; Morán-Jiménez, María-José MJ

Publication Date: 2022

Variant appearance in text: HFE: 187C>G; His63Asp

PubMed Link: 35449524

Variant Present in the following documents:

• CRIPE2022-7743748.pdf

View BVdb publication page

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Expression profiles of iron transport molecules along the duodenum.

Journal Of Cellular And Molecular Medicine

Balusikova, Kamila K; Dostalikova-Cimburova, Marketa M; Tacheci, Ilja I; Kovar, Jan J

Publication Date: 2022-04-21

Variant appearance in text: HFE: H63D

PubMed Link: 35445529

Variant Present in the following documents:

• JCMM-26-2995.pdf

View BVdb publication page

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Hepcidin is potential regulator for renin activity.

Plos One

Piesanen, Jaakko J; Valjakka, Jarkko J; Niemelä, Sanna S; Borgenström, Marjut M; Nikkari, Seppo S; Hytönen, Vesa V; Määttä, Juha J; Kunnas, Tarja T

Publication Date: 2022

Variant appearance in text: HFE: H63D

PubMed Link: 35442992

Variant Present in the following documents:

• pone.0267343.pdf

View BVdb publication page

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Genetics and sports performance: the present and future in the identification of talent for sports based on DNA testing.

European Journal Of Applied Physiology

Varillas-Delgado, David D; Del Coso, Juan J; Gutiérrez-Hellín, Jorge J; Aguilar-Navarro, Millán M; Muñoz, Alejandro A; Maestro, Antonio A; Morencos, Esther E

Publication Date: 2022-04-16

Variant appearance in text: HFE: 187C>G; rs1799945

PubMed Link: 35428907

Variant Present in the following documents:

• 421_2022_Article_4945.pdf

View BVdb publication page

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Iron Metabolism in Aging and Age-Related Diseases.

International Journal Of Molecular Sciences

Tian, Yao Y; Tian, Yuanliangzi Y; Yuan, Zhixiao Z; Zeng, Yutian Y; Wang, Shuai S; Fan, Xiaolan X; Yang, Deying D; Yang, Mingyao M

Publication Date: 2022-03-25

Variant appearance in text: HFE: His63Asp

PubMed Link: 35408967

Variant Present in the following documents:

• ijms-23-03612.pdf

View BVdb publication page

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Best practices for the interpretation and reporting of clinical whole genome sequencing.

Npj Genomic Medicine

Austin-Tse, Christina A CA; Jobanputra, Vaidehi V; Perry, Denise L DL; Bick, David D; Taft, Ryan J RJ; Venner, Eric E; Gibbs, Richard A RA; Young, Ted T; Barnett, Sarah S; Belmont, John W JW; Boczek, Nicole N; Chowdhury, Shimul S; Ellsworth, Katarzyna A KA; Guha, Saurav S; Kulkarni, Shashikant S; Marcou, Cherisse C; Meng, Linyan L; Murdock, David R DR; Rehman, Atteeq U AU; Spiteri, Elizabeth E; Thomas-Wilson, Amanda A; Kearney, Hutton M HM; Rehm, Heidi L HL; ,

Publication Date: 2022-04-08

Variant appearance in text: HFE: 187C>G; His63Asp

PubMed Link: 35395838

Variant Present in the following documents:

• 41525_2022_295_MOESM5_ESM.xlsx

View BVdb publication page

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An exploratory pilot study on the involvement of APOE, HFE, C9ORF72 variants and comorbidities in neurocognitive and physical performance in a group of HIV-infected people.

Metabolic Brain Disease

Zanella, Isabella I; Zacchi, Eliana E; Fornari, Chiara C; Fumarola, Benedetta B; Antoni, Melania Degli MD; Zizioli, Daniela D; Quiros-Roldan, Eugenia E; ,

Publication Date: 2022-03-30

Variant appearance in text: HFE: His63Asp

PubMed Link: 35353274

Variant Present in the following documents:

• 11011_2022_Article_975.pdf

View BVdb publication page

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COVID-19, Cation Dysmetabolism, Sialic Acid, CD147, ACE2, Viroporins, Hepcidin and Ferroptosis: A Possible Unifying Hypothesis.

F1000Research

Cavezzi, Attilio A; Menicagli, Roberto R; Troiani, Emidio E; Corrao, Salvatore S

Publication Date: 2022

Variant appearance in text: HFE: H63D

PubMed Link: 35340277

Variant Present in the following documents:

• f1000research-11-121457.pdf

View BVdb publication page

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Iatrogenic Iron Promotes Neurodegeneration and Activates Self-Protection of Neural Cells against Exogenous Iron Attacks.

Function (Oxford, England)

Xia, Maosheng M; Liang, Shanshan S; Li, Shuai S; Ji, Ming M; Chen, Beina B; Zhang, Manman M; Dong, Chengyi C; Chen, Binjie B; Gong, Wenliang W; Wen, Gehua G; Zhan, Xiaoni X; Zhang, Dianjun D; Li, Xinyu X; Zhou, Yuefei Y; Guan, Dawei D; Verkhratsky, Alexei A; Li, Baoman B

Publication Date: 2021

Variant appearance in text: HFE: H63D

PubMed Link: 35330817

Variant Present in the following documents:

• zqab003.pdf

View BVdb publication page

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A Bioinformatics-Assisted Review on Iron Metabolism and Immune System to Identify Potential Biomarkers of Exercise Stress-Induced Immunosuppression.

Biomedicines

Bonilla, Diego A DA; Moreno, Yurany Y; Petro, Jorge L JL; Forero, Diego A DA; Vargas-Molina, Salvador S; Odriozola-Martínez, Adrián A; Orozco, Carlos A CA; Stout, Jeffrey R JR; Rawson, Eric S ES; Kreider, Richard B RB

Publication Date: 2022-03-21

Variant appearance in text: HFE: H63D; rs1799945

PubMed Link: 35327526

Variant Present in the following documents:

• biomedicines-10-00724.pdf

View BVdb publication page

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Iron Overload Induces Oxidative Stress, Cell Cycle Arrest and Apoptosis in Chondrocytes.

Frontiers In Cell And Developmental Biology

Karim, Asima A; Bajbouj, Khuloud K; Shafarin, Jasmin J; Qaisar, Rizwan R; Hall, Andrew C AC; Hamad, Mawieh M

Publication Date: 2022

Variant appearance in text: HFE: H63D

PubMed Link: 35252185

Variant Present in the following documents:

• fcell-10-821014.pdf

View BVdb publication page

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A Novel TP53 Tandem Duplication in a Child with Li-Fraumeni Syndrome.

Cold Spring Harbor Molecular Case Studies

Xu, Feng F; Aref-Eshghi, Erfan E; Wu, Jinhua J; Schubert, Jeffrey J; Wertheim, Gerald G; Bhatti, Tricia T; Pogoriler, Jennifer J; Patel, Maha M; Cao, Kajia K; Long, Ariel A; Fan, Zhiqian Z; Denenberg, Elizabeth E; Fanning, Elizabeth E; Wilmoth, Donna D; Luo, Minjie M; Conlin, Laura L; Dain, Aleksandra Sarah AS; Baldino, Sarah S; Zelley, Kristin K; Balamuth, Naomi J NJ; Macfarland, Suzanne S; Li, Marilyn M MM; Zhong, Yiming Y

Publication Date: 2022-03-01

Variant appearance in text: HFE: His63Asp

PubMed Link: 35232817

Variant Present in the following documents:

• MCS006181Xu.pdf

View BVdb publication page

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Enabling Diagnostic Resulting as a New Category of Secondary Genomic Findings.

Journal Of Personalized Medicine

Murray, Michael F MF

Publication Date: 2022-01-26

Variant appearance in text: HFE: H63D

PubMed Link: 35207647

Variant Present in the following documents:

• jpm-12-00158.pdf

View BVdb publication page

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Iron in Porphyrias: Friend or Foe?

Diagnostics (Basel, Switzerland)

Buzzetti, Elena E; Ventura, Paolo P; Corradini, Elena E

Publication Date: 2022-01-21

Variant appearance in text: HFE: His63Asp

PubMed Link: 35204362

Variant Present in the following documents:

• diagnostics-12-00272.pdf

View BVdb publication page

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Perspectives in Sports Genomics.

Biomedicines

Ginevičienė, Valentina V; Utkus, Algirdas A; Pranckevičienė, Erinija E; Semenova, Ekaterina A EA; Hall, Elliott C R ECR; Ahmetov, Ildus I II

Publication Date: 2022-01-27

Variant appearance in text: HFE: H63D; rs1799945

PubMed Link: 35203507

Variant Present in the following documents:

• biomedicines-10-00298.pdf

View BVdb publication page

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Effects of Excess Iron on the Retina: Insights From Clinical Cases and Animal Models of Iron Disorders.

Frontiers In Neuroscience

Shahandeh, Ali A; Bui, Bang V BV; Finkelstein, David I DI; Nguyen, Christine T O CTO

Publication Date: 2021

Variant appearance in text: HFE: H63D

PubMed Link: 35185447

Variant Present in the following documents:

• fnins-15-794809.pdf

View BVdb publication page

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Rare co-inherited alpha-thalassemia minor and beta-thalassemia minor with heterozygous H63D mutation mistaken as iron deficiency anemia: a case report.

Ame Case Reports

Chaudhry, Arooj Fatima AF; Malik, Zulfiqar Z; Shegos, Cameron Joseph CJ

Publication Date: 2022

Variant appearance in text: HFE: H63D

PubMed Link: 35128312

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hepatitis C virus: A critical approach to who really needs treatment.

World Journal Of Hepatology

Kouroumalis, Elias E; Voumvouraki, Argyro A

Publication Date: 2022-01-27

Variant appearance in text: HFE: H63D

PubMed Link: 35126838

Variant Present in the following documents:

• WJH-14-1.pdf

View BVdb publication page

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The rs1458038 variant near FGF5 is associated with poor response to calcium channel blockers among Filipinos.

Medicine

Punzalan, Felix Eduardo R FER; Cutiongco-de la Paz, Eva Maria C EMC; Nevado, Jose Jr B JJB; Magno, Jose Donato A JDA; Ona, Deborah Ignacia D DID; Aman, Aimee Yvonne Criselle L AYCL; Tiongson, Marc Denver A MDA; Llanes, Elmer Jasper B EJB; Reganit, Paul Ferdinand M PFM; Tiongco, Richard Henry P RHP; Santos, Lourdes Ella G LEG; Aherrera, Jaime Alfonso M JAM; Abrahan, Lauro L LL; Agustin, Charlene F CF; Bejarin, Adrian John P AJP; Sy, Rody G RG

Publication Date: 2022-02-04

Variant appearance in text: rs1799945

PubMed Link: 35119014

Variant Present in the following documents:

• Main text
• medi-101-e28703.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02-03

Variant appearance in text: HFE: H63D; rs1799945

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx

View BVdb publication page

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Interplay Between Iron Overload and Osteoarthritis: Clinical Significance and Cellular Mechanisms.

Frontiers In Cell And Developmental Biology

Cai, Chenhui C; Hu, Wenhui W; Chu, Tongwei T

Publication Date: 2021

Variant appearance in text: HFE: H63D

PubMed Link: 35096841

Variant Present in the following documents:

• fcell-09-817104.pdf

View BVdb publication page

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Decreased Iron Ion Concentrations in the Peripheral Blood Correlate with Coronary Atherosclerosis.

Nutrients

Meng, Heyu H; Wang, Yueying Y; Ruan, Jianjun J; Chen, Yanqiu Y; Wang, Xue X; Zhou, Fengfeng F; Meng, Fanbo F

Publication Date: 2022-01-13

Variant appearance in text: HFE: His63Asp

PubMed Link: 35057500

Variant Present in the following documents:

• nutrients-14-00319.pdf

View BVdb publication page

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Polymorphism of Transferrin Gene Impacts the Mediating Effects of Psychotic Symptoms on the Relationship between Oxidative Stress and Cognition in Patients with Chronic Schizophrenia.

Antioxidants (Basel, Switzerland)

Chen, Pinhong P; Wang, Dongmei D; Xiu, Meihong M; Chen, Dachun D; Lackey, Blake B; Wu, Hanjing E HE; Zhou, Jin J; Zhang, Xiangyang X

Publication Date: 2022-01-06

Variant appearance in text: HFE: H63D

PubMed Link: 35052629

Variant Present in the following documents:

• antioxidants-11-00125.pdf

View BVdb publication page

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Quality of Life Scores Remained Different among the Genotypic Groups of Patients with Suspected Hemochromatosis, Even after Treatment Period.

Genes

Acevedo, Luis Alfredo Utria LAU; Alvarenga, Aline Morgan AM; Fonseca, Paula Fernanda Silva PFS; da Silva, Nathália Kozikas NK; Cançado, Rodolfo Delfini RD; Naoum, Flavio Augusto FA; Dinardo, Carla Luana CL; Pereira, Alexandre Costa AC; Brissot, Pierre P; Santos, Paulo Caleb Junior Lima PCJL

Publication Date: 2022-01-10

Variant appearance in text: HFE: His63Asp

PubMed Link: 35052458

Variant Present in the following documents:

• Main text
• genes-13-00118.pdf

View BVdb publication page

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Genotype Score for Iron Status Is Associated with Muscle Fiber Composition in Women.

Genes

Takaragawa, Mizuki M; Tobina, Takuro T; Shiose, Keisuke K; Kakigi, Ryo R; Tsuzuki, Takamasa T; Ichinoseki-Sekine, Noriko N; Kumagai, Hiroshi H; Zempo, Hirofumi H; Miyamoto-Mikami, Eri E; Kobayashi, Hiroyuki H; Naito, Hisashi H; Fuku, Noriyuki N

Publication Date: 2021-12-21

Variant appearance in text: rs1799945

PubMed Link: 35052344

Variant Present in the following documents:

• Main text
• genes-13-00005.pdf

View BVdb publication page

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Hemochromatosis risk genotype is not associated with colorectal cancer or age at its diagnosis.

Hgg Advances

Jarvik, Gail P GP; Wang, Xiaoliang X; Fontanillas, Pierre P; Kim, Esther E; Chanprasert, Sirisak S; Gordon, Adam S AS; Bastarache, Lisa L; Kowdley, Kris V KV; Harrison, Tabitha T; Rosenthal, Elisabeth A EA; Stanaway, Ian B IB; Bézieau, Stéphane S; Weinstein, Stephanie J SJ; Newcomb, Polly A PA; Casey, Graham G; Platz, Elizabeth A EA; Visvanathan, Kala K; Le Marchand, Loic L; Ulrich, Cornelia M CM; Hardikar, Sheetal S; Li, Christopher I CI; van Duijnhoven, Franzel J B FJB; Gsur, Andrea A; Campbell, Peter T PT; Moreno, Victor V; Vodička, Pavel P; Brenner, Hermann H; Chang-Claude, Jenny J; Hoffmeister, Michael M; Slattery, Martha L ML; Gunter, Marc J MJ; Aglago, Elom K EK; Castellví-Bel, Sergi S; Kweon, Sun-Seog SS; Chan, Andrew T AT; Li, Li L; Zheng, Wei W; Bishop, D Timothy DT; Giles, Graham G GG; Rennert, Gad G; Offit, Kenneth K; Keku, Temitope O TO; Woods, Michael O MO; Hampe, Jochen J; Van Guelpen, Bethan B; Gallinger, Steven J SJ; de la Chapelle, Albert A; Hampel, Heather H; Berndt, Sonja I SI; Tangen, Catherine M CM; Lindblom, Annika A; Wolk, Alicja A; Burnett-Hartman, Andrea A; Wu, Anna H AH; White, Emily E; , ; Gruber, Stephen B SB; Jenkins, Mark A MA; Mountain, Joanna J; Peters, Ulrike U; Crosslin, David R DR

Publication Date: 2020-10-22

Variant appearance in text: HFE: H63D; rs1799945

PubMed Link: 35047832

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

View BVdb publication page

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Association of Habitual Dietary Intake with Liver Iron-A Population-Based Imaging Study.

Nutrients

Filler, Jule J; von Krüchten, Ricarda R; Wawro, Nina N; Maier, Lisa L; Lorbeer, Roberto R; Nattenmüller, Johanna J; Thorand, Barbara B; Bamberg, Fabian F; Peters, Annette A; Schlett, Christopher L CL; Linseisen, Jakob J; Rospleszcz, Susanne S

Publication Date: 2021-12-28

Variant appearance in text: HFE: H63D

PubMed Link: 35011009

Variant Present in the following documents:

• nutrients-14-00132.pdf

View BVdb publication page

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Hereditary Hemochromatosis Associated With Idiopathic Refractory Aplastic Anemia in a Five-Year-Old Boy: A Case Report.

Cureus

Alharbi, Ibrahim I; Bahakim, Abdullah K AK; Alharthi, Sanad M SM; Alharthi, Saad M SM; Baabdullah, Abdulrahman A AA

Publication Date: 2021-12

Variant appearance in text: HFE: 187C>G; H63D

PubMed Link: 35003970

Variant Present in the following documents:

• Main text
• cureus-0013-00000020135.pdf

View BVdb publication page

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Genetic Variants Assessing Crohn's Disease Pattern in Pediatric Inflammatory Bowel Disease Patients by a Clinical Exome Survey.

Bioinformatics And Biology Insights

Noel, Dago Dougba DD; Marinella, Pinelli P; Mauro, Giacomelli G; Tripodi, Serena Ilaria SI; Pin, Alessia A; Serena, Arrigo A; Matteo, Bramuzzo B; Giuseppe, Fuoti Maurizio FM; Patrizia, Alvisi A; Stefano, Calza C; Tommasini, Alberto A; Raffaele, Badolato B

Publication Date: 2021

Variant appearance in text: rs1799945

PubMed Link: 35002226

Variant Present in the following documents:

• Main text
• 10.1177_11779322211055285.pdf

View BVdb publication page

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Lack of association between C282Y and H63D polymorphisms in the hemochromatosis gene and risk of multiple sclerosis: A meta-analysis.

Biomedical Reports

Starčević Čizmarević, Nada N; Ćurko-Cofek, Božena B; Barac-Latas, Vesna V; Peterlin, Borut B; Ristić, Smiljana S

Publication Date: 2022-02

Variant appearance in text: HFE: H63D

PubMed Link: 34987796

Variant Present in the following documents:

• Main text

View BVdb publication page

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New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.

Genes

Hernández, Gonzalo G; Ferrer-Cortès, Xenia X; Venturi, Veronica V; Musri, Melina M; Pilquil, Martin Floor MF; Torres, Pau Marc Muñoz PMM; Rodríguez, Ines Hernandez IH; Mínguez, Maria Àngels Ruiz MÀR; Kelleher, Nicholas J NJ; Pelucchi, Sara S; Piperno, Alberto A; Alberca, Esther Plensa EP; Ricós, Georgina Gener GG; Giró, Eloi Cañamero EC; Pérez-Montero, Santiago S; Tornador, Cristian C; Villà-Freixa, Jordi J; Sánchez, Mayka M

Publication Date: 2021-12-13

Variant appearance in text: HFE: His63Asp

PubMed Link: 34946929

Variant Present in the following documents:

• Main text
• genes-12-01980.pdf

View BVdb publication page

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Distribution and Associated Factors of Hepatic Iron-A Population-Based Imaging Study.

Metabolites

Maier, Lisa L; von Krüchten, Ricarda R; Lorbeer, Roberto R; Filler, Jule J; Nattenmüller, Johanna J; Thorand, Barbara B; Koenig, Wolfgang W; Rathmann, Wolfgang W; Bamberg, Fabian F; Schlett, Christopher L CL; Peters, Annette A; Rospleszcz, Susanne S

Publication Date: 2021-12-15

Variant appearance in text: rs1799945

PubMed Link: 34940629

Variant Present in the following documents:

• Main text
• metabolites-11-00871.pdf

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Association of muscle fiber composition with health and exercise-related traits in athletes and untrained subjects.

Biology Of Sport

Hall, Elliott C R ECR; Semenova, Ekaterina A EA; Bondareva, Elvira A EA; Borisov, Oleg V OV; Andryushchenko, Oleg N ON; Andryushchenko, Liliya B LB; Zmijewski, Piotr P; Generozov, Edward V EV; Ahmetov, Ildus I II

Publication Date: 2021-10

Variant appearance in text: HFE: H63D

PubMed Link: 34937976

Variant Present in the following documents:

• JBS-38-102923.pdf

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Abdominal pain and cirrhosis at diagnosis of hemochromatosis: Analysis of 219 referred probands with HFE p.C282Y homozygosity and a literature review.

Plos One

Barton, James C JC; Barton, J Clayborn JC; Patel, Neha N; McLaren, Gordon D GD

Publication Date: 2021

Variant appearance in text: HFE: H63D

PubMed Link: 34932603

Variant Present in the following documents:

• Main text
• pone.0261690.pdf

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Screening for hereditary haemochromatosis in patients undergoing knee arthroplasty : a retrospective cohort study of 2,035 patients.

Bone & Joint Open

Krasin, Elisha E; Gold, Aviram A; Morgan, Samuel S; Warschawski, Yaniv Y

Publication Date: 2021-12

Variant appearance in text: HFE: H63D

PubMed Link: 34905938

Variant Present in the following documents:

• Main text
• BJO-2-1062.pdf

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Abnormal liver enzymes: A review for clinicians.

World Journal Of Hepatology

Kalas, M Ammar MA; Chavez, Luis L; Leon, Monica M; Taweesedt, Pahnwat Tonya PT; Surani, Salim S

Publication Date: 2021-11-27

Variant appearance in text: HFE: H63D

PubMed Link: 34904038

Variant Present in the following documents:

• Main text
• WJH-13-1688.pdf

View BVdb publication page

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Healthy Sleep Associated With Lower Risk of Hypertension Regardless of Genetic Risk: A Population-Based Cohort Study.

Frontiers In Cardiovascular Medicine

Li, Zhi-Hao ZH; Huang, Qing-Mei QM; Gao, Xiang X; Chung, Vincent C H VCH; Zhang, Pei-Dong PD; Shen, Dong D; Zhang, Xi-Ru XR; Zhong, Wen-Fang WF; Liu, Dan D; Chen, Pei-Liang PL; Chen, Qing Q; Cai, Miao-Chun MC; Cheng, Xin X; Yang, Hai-Lian HL; Song, Wei-Qi WQ; Wu, Xian-Bo XB; Kraus, Virginia Byers VB; Mao, Chen C

Publication Date: 2021

Variant appearance in text: rs1799945

PubMed Link: 34869684

Variant Present in the following documents:

• Data_Sheet_1.pdf

View BVdb publication page

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Hemophagocytic Lymphohistiocytosis Complicated by Acute Respiratory Distress Syndrome and Multiorgan Failure.

Journal Of Investigative Medicine High Impact Case Reports

Liu, Louisa L; Bashir, Hanad H; Awada, Hassan H; Alzubi, Jafar J; Lane, Jason J

Publication Date: 2021

Variant appearance in text: HFE: H63D

PubMed Link: 34850652

Variant Present in the following documents:

• 10.1177_23247096211052180.pdf

View BVdb publication page

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Hepatocellular Carcinoma in Non-Alcoholic Fatty Liver Disease: From Epidemiology to Diagnostic Approach.

Cancers

Grgurevic, Ivica I; Bozin, Tonci T; Mikus, Mislav M; Kukla, Michal M; O'Beirne, James J

Publication Date: 2021-11-21

Variant appearance in text: HFE: H63D; rs1799945

PubMed Link: 34830997

Variant Present in the following documents:

• Main text
• cancers-13-05844.pdf

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Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.

Genes

Ravasi, Giulia G; Pelucchi, Sara S; Bertola, Francesca F; Capelletti, Martina Maria MM; Mariani, Raffaella R; Piperno, Alberto A

Publication Date: 2021-11-09

Variant appearance in text: HFE: H63D

PubMed Link: 34828384

Variant Present in the following documents:

• Main text
• genes-12-01778.pdf

View BVdb publication page

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HFE hemochromatosis: an overview about therapeutic recommendations.

Hematology, Transfusion And Cell Therapy

Cancado, Rodolfo D RD; Alvarenga, Aline Morgan AM; Santos, Paulo Caleb Jl PCJ

Publication Date: 2021-11-17

Variant appearance in text: HFE: His63Asp

PubMed Link: 34824033

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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The diagnostic trajectory of infants and children with clinical features of genetic disease.

Npj Genomic Medicine

Schroeder, Brock E BE; Gonzaludo, Nina N; Everson, Katie K; Than, Kyi-Sin KS; Sullivan, Jeff J; Taft, Ryan J RJ; Belmont, John W JW

Publication Date: 2021-11-22

Variant appearance in text: HFE: H63D

PubMed Link: 34811359

Variant Present in the following documents:

• 41525_2021_260_MOESM1_ESM.pdf

View BVdb publication page

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Iron-Storage Disorder Presenting as Chronic Diarrhea.

Cureus

Vobugari, Nikitha N; Kim, Jeffrey J; Gandhi, Kejal D KD; Lee, Zone-En ZE; Smith, Hedy P HP

Publication Date: 2021-10

Variant appearance in text: HFE: H63D

PubMed Link: 34804717

Variant Present in the following documents:

• Main text
• cureus-0013-00000018864.pdf

View BVdb publication page

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Molecular genetics of β-thalassemia: A narrative review.

Medicine

Jaing, Tang-Her TH; Chang, Tsung-Yen TY; Chen, Shih-Hsiang SH; Lin, Chen-Wei CW; Wen, Yu-Chuan YC; Chiu, Chia-Chi CC

Publication Date: 2021-11-12

Variant appearance in text: HFE: H63D

PubMed Link: 34766559

Variant Present in the following documents:

• Main text
• medi-100-e27522.pdf

View BVdb publication page

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Prediction and Identification of Power Performance Using Polygenic Models of Three Single-Nucleotide Polymorphisms in Chinese Elite Athletes.

Frontiers In Genetics

Yang, Ruoyu R; Jin, Feng F; Wang, Liyan L; Shen, Xunzhang X; Guo, Qi Q; Song, Haihan H; Hu, Jingyun J; Zhao, Qiang Q; Wan, Jian J; Cai, Ming M

Publication Date: 2021

Variant appearance in text: HFE: His63Asp; rs1799945

PubMed Link: 34691150

Variant Present in the following documents:

• Main text
• fgene-12-726552.pdf

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Cardiometabolic, Lifestyle, and Nutritional Factors in Relation to Varicose Veins: A Mendelian Randomization Study.

Journal Of The American Heart Association

Yuan, Shuai S; Bruzelius, Maria M; Damrauer, Scott M SM; Larsson, Susanna C SC

Publication Date: 2021-11-02

Variant appearance in text: rs1799945

PubMed Link: 34666504

Variant Present in the following documents:

• JAH3-10-e022286-s001.pdf
• JAH3-10-e022286.pdf

View BVdb publication page

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Astrocyte dysfunction in Parkinson's disease: from the perspectives of transmitted α-synuclein and genetic modulation.

Translational Neurodegeneration

Wang, Changjing C; Yang, Tongtong T; Liang, Meiyu M; Xie, Junxia J; Song, Ning N

Publication Date: 2021-10-18

Variant appearance in text: HFE: H63D

PubMed Link: 34657636

Variant Present in the following documents:

• Main text
• 40035_2021_Article_265.pdf

View BVdb publication page

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Hereditary hemochromatosis and JAK2-positive polycythemia vera.

Clinical Case Reports

Radwan, Ahmed A; Othman, Ibraheem I

Publication Date: 2021-10

Variant appearance in text: HFE: H63D

PubMed Link: 34631089

Variant Present in the following documents:

• Main text
• CCR3-9-e04907.pdf

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What's Important and New in Hemochromatosis?

Clinical Hematology International

Brissot, Pierre P; Brissot, Eolia E

Publication Date: 2020-12

Variant appearance in text: HFE: H63D

PubMed Link: 34595455

Variant Present in the following documents:

• Main text
• CHI-2-4-143.pdf

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Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China.

Orphanet Journal Of Rare Diseases

Wu, Liyan L; Zhang, Wei W; Li, Yanmeng Y; Zhou, Donghu D; Zhang, Bei B; Xu, Anjian A; Wu, Zhen Z; Wu, Lina L; Li, Shuxiang S; Wang, Xiaoming X; Zhao, Xinyan X; Wang, Qianyi Q; Li, Min M; Wang, Yu Y; You, Hong H; Huang, Jian J; Ou, Xiaojuan X; Jia, Jidong J

Publication Date: 2021-09-28

Variant appearance in text: HFE: H63D

PubMed Link: 34583728

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2020.pdf

View BVdb publication page

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Significance of Hereditary Hemochromatosis Gene (HFE) Mutations in Chronic Hepatitis C and Hepatocellular Carcinoma Patients in Egypt: A Pilot Study.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Dawood, Reham M RM; Abd El Meguid, Mai M; Elrobe, Walied W; Salum, Ghada M GM; Zayed, Naglaa N; Mousa, Sherief S; Medhat, Eman E

Publication Date: 2021-09-01

Variant appearance in text: HFE: His63Asp

PubMed Link: 34582652

Variant Present in the following documents:

• APJCP-22-2837.pdf

View BVdb publication page

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Genetic variants associated with platelet count are predictive of human disease and physiological markers.

Communications Biology

Mikaelsdottir, Evgenia E; Thorleifsson, Gudmar G; Stefansdottir, Lilja L; Halldorsson, Gisli G; Sigurdsson, Jon K JK; Lund, Sigrun H SH; Tragante, Vinicius V; Melsted, Pall P; Rognvaldsson, Solvi S; Norland, Kristjan K; Helgadottir, Anna A; Magnusson, Magnus K MK; Ragnarsson, Gunnar B GB; Kristinsson, Sigurdur Y SY; Reykdal, Sigrun S; Vidarsson, Brynjar B; Gudmundsdottir, Ingibjorg J IJ; Olafsson, Isleifur I; Onundarson, Pall T PT; Sigurdardottir, Olof O; Sigurdsson, Emil L EL; Grondal, Gerdur G; Geirsson, Arni J AJ; Geirsson, Gudmundur G; Gudmundsson, Julius J; Holm, Hilma H; Saevarsdottir, Saedis S; Jonsdottir, Ingileif I; Thorgeirsson, Gudmundur G; Gudbjartsson, Daniel F DF; Thorsteinsdottir, Unnur U; Rafnar, Thorunn T; Stefansson, Kari K

Publication Date: 2021-09-27

Variant appearance in text: HFE: His63Asp; rs1799945

PubMed Link: 34580418

Variant Present in the following documents:

• 42003_2021_2642_MOESM4_ESM.xlsx

View BVdb publication page

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Anemia in Sports: A Narrative Review.

Life (Basel, Switzerland)

Damian, Marc-Tudor MT; Vulturar, Romana R; Login, Cristian Cezar CC; Damian, Laura L; Chis, Adina A; Bojan, Anca A

Publication Date: 2021-09-20

Variant appearance in text: HFE: H63D

PubMed Link: 34575136

Variant Present in the following documents:

• Main text
• life-11-00987.pdf

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CSF Diagnostics: A Potentially Valuable Tool in Neurodegenerative and Inflammatory Disorders Involving Motor Neurons: A Review.

Diagnostics (Basel, Switzerland)

Krause, Karsten K; Wulf, Maximilian M; Sommer, Paula P; Barkovits, Katalin K; Vorgerd, Matthias M; Marcus, Katrin K; Eggers, Britta B

Publication Date: 2021-08-24

Variant appearance in text: HFE: H63D

PubMed Link: 34573864

Variant Present in the following documents:

• Main text
• diagnostics-11-01522.pdf

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Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease.

Biomedicines

Sánchez-Monteagudo, Ana A; Ripollés, Edna E; Berenguer, Marina M; Espinós, Carmen C

Publication Date: 2021-08-28

Variant appearance in text: HFE: H63D

PubMed Link: 34572285

Variant Present in the following documents:

• Main text
• biomedicines-09-01100.pdf

View BVdb publication page

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Evidence That HFE H63D Variant Is a Potential Disease Modifier in Cluster Headache.

Journal Of Molecular Neuroscience : Mn

Papasavva, Maria M; Vikelis, Michail M; Katsarou, Martha-Spyridoula MS; Siokas, Vasileios V; Dermitzakis, Emmanouil E; Papademetriou, Christoforos C; Karakostis, Konstantinos K; Lazopoulos, George G; Dardiotis, Efthimios E; Drakoulis, Nikolaos N

Publication Date: 2021-09-27

Variant appearance in text: HFE: H63D; rs1799945

PubMed Link: 34570359

Variant Present in the following documents:

• 12031_2021_Article_1913.pdf

View BVdb publication page

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In vitro effect of ferrous sulphate on bovine spermatozoa motility parameters, viability and Annexin V-labeled membrane changes.

Plos One

Knazicka, Zuzana Z; Duranova, Hana H; Fialkova, Veronika V; Miskeje, Michal M; Jambor, Tomas T; Makarevich, Alexander V AV; Roychoudhury, Shubhadeep S; Kovacik, Anton A; Massanyi, Peter P; Lukac, Norbert N

Publication Date: 2021

Variant appearance in text: HFE: H63D

PubMed Link: 34555113

Variant Present in the following documents:

• pone.0257766.pdf

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Estimating the Population Benefits of Blood Pressure Lowering: A Wide-Angled Mendelian Randomization Study in UK Biobank.

Journal Of The American Heart Association

Higgins, Hannah H; Mason, Amy M AM; Larsson, Susanna C SC; Gill, Dipender D; Langenberg, Claudia C; Burgess, Stephen S

Publication Date: 2021-09-07

Variant appearance in text: rs1799945

PubMed Link: 34459231

Variant Present in the following documents:

• JAH3-10-e021098.pdf
• JAH3-10-e021098-s001.pdf

View BVdb publication page

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HFE Genotype, Ferritin Levels and Transferrin Saturation in Patients with Suspected Hereditary Hemochromatosis.

Genes

Sandnes, Miriam M; Vorland, Marta M; Ulvik, Rune J RJ; Reikvam, Håkon H

Publication Date: 2021-07-28

Variant appearance in text: HFE: H63D

PubMed Link: 34440336

Variant Present in the following documents:

• Main text
• genes-12-01162.pdf

View BVdb publication page

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