Publications:

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Post-Traumatic Stress Disorder Is Associated with Elevated Plasma Cholesterol in Female TT Homozygotes of LDLR rs5925.

International Journal Of Molecular Sciences

Wang, Jinhua J; Jia, Kexin K; Guo, Qiwei Q; Liu, Junyi J; Cai, Jiajing J; Shen, Yilin Y; Su, Guoming G; Chen, Xu X; Lin, Jia J; Fang, Dingzhi D

Publication Date: 2023-05-19

Variant appearance in text: rs5925

PubMed Link: 37240367

Variant Present in the following documents:

• Main text
• ijms-24-09016.pdf

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs5925

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION.

International Journal Of Molecular Sciences

Nazarenko, Maria S MS; Sleptcov, Aleksei A AA; Zarubin, Aleksei A AA; Salakhov, Ramil R RR; Shevchenko, Alexander I AI; Tmoyan, Narek A NA; Elisaphenko, Eugeny A EA; Zubkova, Ekaterina S ES; Zheltysheva, Nina V NV; Ezhov, Marat V MV; Kukharchuk, Valery V VV; Parfyonova, Yelena V YV; Zakian, Suren M SM; Zakharova, Irina S IS

Publication Date: 2023-02-24

Variant appearance in text: LDLR: Val653=; rs5925

PubMed Link: 36901902

Variant Present in the following documents:

• Main text
• ijms-24-04471.pdf

View BVdb publication page

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Role of low-density lipoprotein receptor rs5925 (1959C>T) gene polymorphism in pathogenesis of dyslipidemia among Egyptian lupus nephritis patients.

Archives Of Rheumatology

Alsabbagh, Yumn A YA; Ahmed, Saher A SA; Salama, Heba E HE; Abd-Elmawla, Mai A MA; Elgendy, Hala L HL

Publication Date: 2022-12

Variant appearance in text: LDLR: Val653Val; rs5925

PubMed Link: 36879570

Variant Present in the following documents:

• ArchRheumatol-2022-37-584.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: LDLR: V653V; rs5925

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: LDLR: V653V; rs5925

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: rs5925

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Apolipoprotein E Isoform-specific changes related to stress and trauma exposure.

Translational Psychiatry

Torres, Eileen Ruth S ERS; Luo, Jenny J; Boehnlein, James K JK; Towns, Daniel D; Kinzie, J David JD; DeBarber, Andrea E AE; Raber, Jacob J

Publication Date: 2022-03-28

Variant appearance in text: rs5925

PubMed Link: 35347119

Variant Present in the following documents:

• Main text
• 41398_2022_Article_1848.pdf

View BVdb publication page

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Two Novel Disease-Causing Mutations in the LDLR of Familial Hypercholesterolemia.

Frontiers In Genetics

Hu, Haochang H; Shu, Tian T; Ma, Jun J; Chen, Ruoyu R; Wang, Jian J; Wang, Shuangshuang S; Lin, Shaoyi S; Chen, Xiaomin X

Publication Date: 2021

Variant appearance in text: LDLR: 1959T>C

PubMed Link: 34970301

Variant Present in the following documents:

• Main text
• fgene-12-762587.pdf

View BVdb publication page

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Polymorphisms in Genes of Lipid Metabolism Are Associated with Type 2 Diabetes Mellitus and Periodontitis, as Comorbidities, and with the Subjects' Periodontal, Glycemic, and Lipid Profiles.

Journal Of Diabetes Research

Nicchio, Ingra G IG; Cirelli, Thamiris T; Nepomuceno, Rafael R; Hidalgo, Marco A R MAR; Rossa, Carlos C; Cirelli, Joni A JA; Orrico, Silvana R P SRP; Barros, Silvana P SP; Theodoro, Letícia H LH; Scarel-Caminaga, Raquel M RM

Publication Date: 2021

Variant appearance in text: rs5925

PubMed Link: 34805411

Variant Present in the following documents:

• Main text
• JDR2021-1049307.pdf

View BVdb publication page

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Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine

Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G

Publication Date: 2021-08-31

Variant appearance in text: rs5925

PubMed Link: 34575654

Variant Present in the following documents:

• Main text

View BVdb publication page

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LDLR gene polymorphism (rs688) affects susceptibility to cardiovascular disease in end-stage kidney disease patients.

Bmc Nephrology

Buraczynska, Monika M; Jacob, Jerry J; Gwiazda-Tyndel, Karolina K; Ksiazek, Andrzej A

Publication Date: 2021-09-23

Variant appearance in text: rs5925

PubMed Link: 34556050

Variant Present in the following documents:

• Main text
• 12882_2021_Article_2532.pdf

View BVdb publication page

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The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia.

Lipids In Health And Disease

Hu, Haochang H; Chen, Ruoyu R; Hu, Yingchu Y; Wang, Jian J; Lin, Shaoyi S; Chen, Xiaomin X

Publication Date: 2021-09-12

Variant appearance in text: LDLR: 1959T>C

PubMed Link: 34511120

Variant Present in the following documents:

• Main text
• 12944_2021_Article_1536.pdf

View BVdb publication page

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Hypertension is associated with a variant in the RARRES2 gene in populations of Ouro Preto, Minas Gerais, Brazil: a cross-sectional study.

International Journal Of Molecular Epidemiology And Genetics

Batista, Aline Priscila AP; Barbosa, Keila Furbino KF; de Azevedo, Rafael Júnior RJ; Vianna, Valeska Natiely VN; de Queiroz, Erica Maria EM; Marinho, Carolina Coimbra CC; Machado-Coelho, George Luiz Lins GLL

Publication Date: 2021

Variant appearance in text: rs5925

PubMed Link: 34336137

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of Lipoprotein (a) variants with risk of cardiovascular disease: a Mendelian randomization study.

Lipids In Health And Disease

Xia, Juan J; Guo, Chunyue C; Liu, Kuo K; Xie, Yunyi Y; Cao, Han H; Peng, Wenjuan W; Sun, Yanyan Y; Liu, Xiaohui X; Li, Bingxiao B; Zhang, Ling L

Publication Date: 2021-06-01

Variant appearance in text: rs5925

PubMed Link: 34074296

Variant Present in the following documents:

• Main text
• 12944_2021_Article_1482.pdf

View BVdb publication page

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Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.

Journal Of Clinical Medicine

Vlad, Cristiana-Elena CE; Foia, Liliana Georgeta LG; Popescu, Roxana R; Popa, Ioana I; Aanicai, Ruxandra R; Reurean-Pintilei, Delia D; Toma, Vasilica V; Florea, Laura L; Kanbay, Mehmet M; Covic, Adrian A

Publication Date: 2021-03-31

Variant appearance in text: LDLR: 1959T>C; Val653=

PubMed Link: 33807407

Variant Present in the following documents:

• Main text
• jcm-10-01399-s001.pdf
• jcm-10-01399.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: LDLR: Val653Val; rs5925

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: LDLR: 1959T>C; Val653Val; rs5925

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: LDLR: 1959T>C; V653V; rs5925

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Association of Candidate Gene Polymorphism with Metabolic Syndrome among Mongolian Subjects: A Case-Control Study.

Medical Sciences (Basel, Switzerland)

Chuluun-Erdene, Ariunbold A; Sengeragchaa, Orgil O; Altangerel, Tsend-Ayush TA; Sanjmyatav, Purevjal P; Dagdan, Batnaran B; Battulga, Solongo S; Enkhbat, Lundiamaa L; Byambasuren, Nyamjav N; Malchinkhuu, Munkhzol M; Janlav, Munkhtstetseg M

Publication Date: 2020-09-02

Variant appearance in text: LDLR: Val653Val; rs5925

PubMed Link: 32887252

Variant Present in the following documents:

• Main text
• medsci-08-00038.pdf

View BVdb publication page

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High levels of chemerin associated with variants in the NOS3 and APOB genes in rural populations of Ouro Preto, Minas Gerais, Brazil.

Brazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas

Batista, A P AP; Barbosa, K F KF; Masioli, C Z CZ; Queiroz, E M EM; Marinho, C C CC; Cândido, A P C APC; Machado-Coelho, G L L GLL

Publication Date: 2020

Variant appearance in text: rs5925

PubMed Link: 32401924

Variant Present in the following documents:

• Main text
• 1414-431X-bjmbr-53-6-e9113.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs5925

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations.

Plos One

Hayat, Mahtaab M; Kerr, Robyn R; Bentley, Amy R AR; Rotimi, Charles N CN; Raal, Frederick J FJ; Ramsay, Michèle M

Publication Date: 2020

Variant appearance in text: rs5925

PubMed Link: 32084179

Variant Present in the following documents:

• Main text
• pone.0229098.pdf

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: LDLR: 1959T>C; V653V; rs5925

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: LDLR: 1959T>C; Val653=

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Pharmacogenetic analyses of variations of measures of cardiovascular risk in Alzheimer's dementia.

The Indian Journal Of Medical Research

de Oliveira, Fabricio Ferreira FF; Berretta, Juliana Marília JM; de Almeida Junior, Guido Veiga GV; de Almeida, Sandro Soares SS; Chen, Elizabeth Suchi ES; Smith, Marilia Cardoso MC; Bertolucci, Paulo Henrique Ferreira PHF

Publication Date: 2019-09

Variant appearance in text: rs5925

PubMed Link: 31719297

Variant Present in the following documents:

• Main text

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: LDLR: 1959T>C; Val653=; rs5925

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: LDLR: V653V; rs5925

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Characterization of LDLR rs5925 and PCSK9 rs505151 genetic variants frequencies in healthy subjects from northern Chile: Influence on plasma lipid levels.

Journal Of Clinical Laboratory Analysis

Rojas, Claudio C; Ramírez, Hugo H; Salazar, Luis A LA; Kalergis, Alexis M AM; Gálvez, Anita S AS; Escobar-Vera, Jorge J

Publication Date: 2019-11

Variant appearance in text: rs5925

PubMed Link: 31441123

Variant Present in the following documents:

• Main text
• JCLA-33-na.pdf

View BVdb publication page

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LDLR Gene Polymorphisms (rs5925 and rs1529729) Are Associated with Susceptibility to Coronary Artery Disease in a South Indian Population.

Medical Sciences (Basel, Switzerland)

K Jha, Chandan C; Mir, Rashid R; Elfaki, Imadeldin I; Banu, Shaheena S; Chahal, S M S SMS

Publication Date: 2019-07-15

Variant appearance in text: rs5925

PubMed Link: 31311124

Variant Present in the following documents:

• Main text
• medsci-07-00080.pdf

View BVdb publication page

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Genetic markers of lipid metabolism genes associated with low susceptibility to HCV infection.

Scientific Reports

Real, Luis Miguel LM; Macías, Juan J; Rivero-Juárez, Antonio A; Téllez, Francisco F; Merino, Dolores D; Moreno-Grau, Sonia S; Orellana, Adelina A; Gómez-Salgado, Juan J; Sáez, María E ME; Frías, Mario M; Corma-Gómez, Anaïs A; Merchante, Nicolás N; Ruiz, Agustín A; Caruz, Antonio A; Pineda, Juan A JA; ,

Publication Date: 2019-06-21

Variant appearance in text: rs5925

PubMed Link: 31227787

Variant Present in the following documents:

• Main text

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: LDLR: 1959T>C; Val653Val; rs5925

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs5925

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: LDLR: 1959T>C; rs5925

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs5925

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Novel compound heterozygous mutations in low density lipoprotein receptor gene causes a severe phenotype in a Chinese hypercholesterolemia family.

Experimental And Therapeutic Medicine

Cheng, Xinyao X; Huang, Yifang Y; Qiu, Xueping X; Cheng, Xiaohuan X; Jin, Yalei Y; Hu, Yafei Y; Yang, Bing B; Zhao, Jingbo J; Lei, Yuhua Y; Zheng, Fang F

Publication Date: 2018-08

Variant appearance in text: LDLR: 1959T>C; Val653Val

PubMed Link: 30112042

Variant Present in the following documents:

• Main text

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: LDLR: 1959T>C; V653V; rs5925

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

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LDLR rs688 TT Genotype and T Allele Are Associated with Increased Susceptibility to Coronary Artery Disease-A Case-Control Study.

Journal Of Cardiovascular Development And Disease

Jha, Chandan K CK; Mir, Rashid R; Khullar, Naina N; Banu, Shaheena S; Chahal, S M S SMS

Publication Date: 2018-05-29

Variant appearance in text: rs5925

PubMed Link: 29843469

Variant Present in the following documents:

• Main text
• jcdd-05-00031.pdf

View BVdb publication page

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