Publications:

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In silico methods for predicting functional synonymous variants.

Genome Biology

Lin, Brian C BC; Katneni, Upendra U; Jankowska, Katarzyna I KI; Meyer, Douglas D; Kimchi-Sarfaty, Chava C

Publication Date: 2023-05-22

Variant appearance in text: COMT: 186C>T

PubMed Link: 37217943

Variant Present in the following documents:

• 13059_2023_Article_2966.pdf

View BVdb publication page

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A Comprehensive Review of the Genetic and Epigenetic Contributions to the Development of Fibromyalgia.

Biomedicines

Ovrom, Erik A EA; Mostert, Karson A KA; Khakhkhar, Shivani S; McKee, Daniel P DP; Yang, Padao P; Her, Yeng F YF

Publication Date: 2023-04-07

Variant appearance in text: rs4633

PubMed Link: 37189737

Variant Present in the following documents:

• Main text
• biomedicines-11-01119.pdf

View BVdb publication page

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Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.

Frontiers In Pharmacology

Parada-Márquez, Juan Fernando JF; Maldonado-Rodriguez, Nicolás David ND; Triana-Fonseca, Paula P; Contreras-Bravo, Nora Constanza NC; Calderón-Ospina, Carlos Alberto CA; Restrepo, Carlos M CM; Morel, Adrien A; Ortega-Recalde, Oscar Javier OJ; Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Fonseca-Mendoza, Dora Janeth DJ

Publication Date: 2023

Variant appearance in text: COMT: His62=

PubMed Link: 37021041

Variant Present in the following documents:

• Main text
• Table3.xlsx, sheet 1
• fphar-14-1047854.pdf

View BVdb publication page

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Polymorphisms in COMT and OPRM1 Collectively Contribute to Chronic Shoulder Pain and Disability in South African Breast Cancer Survivors'.

Genes

Firfirey, Firzana F; Shamley, Delva D; September, Alison V AV

Publication Date: 2022-12-21

Variant appearance in text: rs4633

PubMed Link: 36672750

Variant Present in the following documents:

• Main text
• genes-14-00009.pdf

View BVdb publication page

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Loneliness, Depression, and Genetics in the Elderly: Prognostic Factors of a Worse Health Condition?

International Journal Of Environmental Research And Public Health

Delgado-Losada, María Luisa ML; Bouhaben, Jaime J; Arroyo-Pardo, Eduardo E; Aparicio, Aránzazu A; López-Parra, Ana María AM

Publication Date: 2022-11-22

Variant appearance in text: rs4633

PubMed Link: 36497531

Variant Present in the following documents:

• ijerph-19-15456.pdf

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: COMT: H62H; rs4633

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Characterizing OPRM1 DNA methylation in prescription opioid users with chronic musculoskeletal pain.

Pain Reports

Sheikh, Sophia S; Smotherman, Carmen C; Patel, Monika M; Langaee, Taimour T; Wang, Danxin D; Swaray, Edward E; Velasquez, Esteban E; Schmidt, Siegfried O F SOF; Hendry, Phyllis P; Cavallari, Larisa H LH; Fillingim, Roger B RB

Publication Date: 2022

Variant appearance in text: rs4633

PubMed Link: 36447952

Variant Present in the following documents:

• Main text
• painreports-7-e1046.pdf

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: COMT: 186C>T; H62H; rs4633

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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Decoding the mechanism of hypertension through multiomics profiling.

Journal Of Human Hypertension

Adua, Eric E

Publication Date: 2022-11-03

Variant appearance in text: rs4633

PubMed Link: 36329155

Variant Present in the following documents:

• Main text
• 41371_2022_Article_769.pdf

View BVdb publication page

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Genetic and epigenetic regulation of Catechol-O-methyltransferase in relation to inflammation in chronic fatigue syndrome and Fibromyalgia.

Journal Of Translational Medicine

Polli, Andrea A; Hendrix, Jolien J; Ickmans, Kelly K; Bakusic, Jelena J; Ghosh, Manosij M; Monteyne, Dora D; Velkeniers, Brigitte B; Bekaert, Bram B; Nijs, Jo J; Godderis, Lode L

Publication Date: 2022-10-25

Variant appearance in text: rs4633

PubMed Link: 36284330

Variant Present in the following documents:

• Main text
• 12967_2022_Article_3662.pdf

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: COMT: 186C>T; His62His; rs4633

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

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: COMT: H62H

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_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: COMT: H62H; rs4633

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

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Sex hormone-related polymorphisms in endometriosis and migraine: A narrative review.

Women'S Health (London, England)

van der Vaart, Joy-Fleur JF; Merki-Feld, Gabriele Susanne GS

Publication Date: 2022

Variant appearance in text: rs4633

PubMed Link: 35848345

Variant Present in the following documents:

• Main text
• 10.1177_17455057221111315.pdf

View BVdb publication page

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: COMT: H62H

PubMed Link: 35802478

Variant Present in the following documents:

• noac171_suppl_suplementary_table_s1.xlsx, sheet 1
• noac171_suppl_suplementary_table_s7.xlsx, sheet 1
• noac171_suppl_suplementary_table_ss9.xls, sheet 1

View BVdb publication page

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Folate Related Pathway Gene Analysis Reveals a Novel Metabolic Variant Associated with Alzheimer's Disease with a Change in Metabolic Profile.

Metabolites

Miyan, Jaleel J; Buttercase, Charlotte C; Beswick, Emma E; Miyan, Salma S; Moshkdanian, Ghazaleh G; Naz, Naila N

Publication Date: 2022-05-24

Variant appearance in text: rs4633

PubMed Link: 35736408

Variant Present in the following documents:

• Main text
• metabolites-12-00475.pdf

View BVdb publication page

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Dopamine DRD2 and DRD3 Polymorphisms Involvement in Nicotine Dependence in Patients with Treatment-Resistant Mental Disorders.

Journal Of Personalized Medicine

Del Casale, Antonio A; Paolini, Marco M; Gentile, Giovanna G; Borro, Marina M; Zocchi, Clarissa C; Fiaschè, Federica F; Padovano, Alessio A; Zoppi, Teodolinda T; Modesti, Martina Nicole MN; De Luca, Ottavia O; Pomes, Leda Marina LM; Brugnoli, Roberto R; Ferracuti, Stefano S; Girardi, Paolo P; Pompili, Maurizio M; Simmaco, Maurizio M

Publication Date: 2022-04-02

Variant appearance in text: rs4633

PubMed Link: 35455685

Variant Present in the following documents:

• Main text
• jpm-12-00565.pdf

View BVdb publication page

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Pharmacogenetics in Primary Headache Disorders.

Frontiers In Pharmacology

Belyaeva, Irina I II; Subbotina, Anna G AG; Eremenko, Ivan I II; Tarasov, Vadim V VV; Chubarev, Vladimir N VN; Schiöth, Helgi B HB; Mwinyi, Jessica J

Publication Date: 2021

Variant appearance in text: rs4633

PubMed Link: 35222013

Variant Present in the following documents:

• Main text
• fphar-12-820214.pdf

View BVdb publication page

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Genetic Susceptibility Toward Nausea and Vomiting in Surgical Patients.

Frontiers In Genetics

Gloor, Yvonne Y; Czarnetzki, Christoph C; Curtin, François F; Gil-Wey, Béatrice B; Tramèr, Martin R MR; Desmeules, Jules A JA

Publication Date: 2021

Variant appearance in text: rs4633

PubMed Link: 35173765

Variant Present in the following documents:

• Main text

View BVdb publication page

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COMT Val/Met and Psychopathic Traits in Children and Adolescents: A Systematic Review and New Evidence of a Developmental Trajectory toward Psychopathy.

International Journal Of Molecular Sciences

Kant, Tuana T; Koyama, Emiko E; Zai, Clement C CC; Beitchman, Joseph H JH; Kennedy, James L JL

Publication Date: 2022-02-04

Variant appearance in text: COMT: His62His; rs4633

PubMed Link: 35163702

Variant Present in the following documents:

• Main text

View BVdb publication page

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COMT Val/Met and Psychopathic Traits in Children and Adolescents: A Systematic Review and New Evidence of a Developmental Trajectory toward Psychopathy.

International Journal Of Molecular Sciences

Kant, Tuana T; Koyama, Emiko E; Zai, Clement C CC; Beitchman, Joseph H JH; Kennedy, James L JL

Publication Date: 2022-02-04

Variant appearance in text: COMT: His62His; rs4633

PubMed Link: 35163702

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Factors Associated With Tardive Dyskinesia: From Pre-clinical Models to Clinical Studies.

Frontiers In Pharmacology

Tsermpini, Evangelia Eirini EE; Redenšek, Sara S; Dolžan, Vita V

Publication Date: 2021

Variant appearance in text: rs4633

PubMed Link: 35140610

Variant Present in the following documents:

• Main text
• fphar-12-834129.pdf

View BVdb publication page

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A literature review of dopamine in binge eating.

Journal Of Eating Disorders

Yu, Yang Y; Miller, Renee R; Groth, Susan W SW

Publication Date: 2022-01-28

Variant appearance in text: rs4633

PubMed Link: 35090565

Variant Present in the following documents:

• Main text
• 40337_2022_Article_531.pdf

View BVdb publication page

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A literature review of dopamine in binge eating.

Journal Of Eating Disorders

Yu, Yang Y; Miller, Renee R; Groth, Susan W SW

Publication Date: 2022-01-28

Variant appearance in text: rs4633

PubMed Link: 35090565

Variant Present in the following documents:

• Main text
• 40337_2022_Article_531.pdf

View BVdb publication page

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Novel Probable Glance at Inflammatory Scenario Development in Autistic Pathology.

Frontiers In Psychiatry

Harutyunyan, Aida A AA; Harutyunyan, Hayk A HA; Yenkoyan, Konstantin B KB

Publication Date: 2021

Variant appearance in text: COMT: H62H

PubMed Link: 35002805

Variant Present in the following documents:

• Main text
• fpsyt-12-788779.pdf

View BVdb publication page

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Interplay between genetics and lifestyle on pain susceptibility in women with fibromyalgia: the al-Ándalus project.

Rheumatology (Oxford, England)

Estévez-López, Fernando F; Guerrero-González, Juan M JM; Salazar-Tortosa, Diego D; Camiletti-Moirón, Daniel D; Gavilán-Carrera, Blanca B; Aparicio, Virginia A VA; Acosta-Manzano, Pedro P; Álvarez-Gallardo, Inmaculada C IC; Segura-Jiménez, Víctor V; Soriano-Maldonado, Alberto A; Geenen, Rinie R; Delgado-Fernández, Manuel M; Martínez-González, Luis J LJ; Ruiz, Jonatan R JR; Álvarez-Cubero, María J MJ

Publication Date: 2022-08-03

Variant appearance in text: rs4633

PubMed Link: 34875034

Variant Present in the following documents:

• Main text
• keab911.pdf

View BVdb publication page

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Association of COMT Polymorphisms with Multiple Physical Activity-Related Injuries among University Students in China.

International Journal Of Environmental Research And Public Health

Chen, Shangmin S; Cai, Weicong W; Duan, Shiwei S; Gao, Lijie L; Yang, Wenda W; Gao, Yang Y; Jia, Cunxian C; Zhang, Hongjuan H; Li, Liping L

Publication Date: 2021-10-15

Variant appearance in text: rs4633

PubMed Link: 34682575

Variant Present in the following documents:

• Main text
• ijerph-18-10828.pdf

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: rs4633

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Contribution of CYP2D6 Functional Activity to Oxycodone Efficacy in Pain Management: Genetic Polymorphisms, Phenoconversion, and Tissue-Selective Metabolism.

Pharmaceutics

Deodhar, Malavika M; Turgeon, Jacques J; Michaud, Veronique V

Publication Date: 2021-09-14

Variant appearance in text: rs4633

PubMed Link: 34575542

Variant Present in the following documents:

• Main text
• pharmaceutics-13-01466.pdf

View BVdb publication page

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Endorphinergic Enhancement Attenuation of Post-traumatic Stress Disorder (PTSD) via Activation of Neuro-immunological Function in the Face of a Viral Pandemic.

Current Psychopharmacology

Blum, Kenneth K; Modestino, Edward J EJ; Baron, David D; Brewer, Raymond R; Thanos, Panayotis P; Elman, Igor I; Badgaiyan, Rajendra D RD; Downs, B William BW; Bagchi, Debasis D; McLaughlin, Thomas T; Bowirrat, Abdalla A; Roy, A Kenison AK; Gold, Mark S MS

Publication Date: 2021-08-01

Variant appearance in text: rs4633

PubMed Link: 34466374

Variant Present in the following documents:

• Main text

View BVdb publication page

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Advancing a temporal framework for understanding the biology of nonsuicidal self- injury: An expert review.

Neuroscience And Biobehavioral Reviews

Kaess, Michael M; Hooley, Jill M JM; Klimes-Dougan, Bonnie B; Koenig, Julian J; Plener, Paul L PL; Reichl, Corinna C; Robinson, Kealagh K; Schmahl, Christian C; Sicorello, Maurizio M; Westlund Schreiner, Mindy M; Cullen, Kathryn R KR

Publication Date: 2021-11

Variant appearance in text: rs4633

PubMed Link: 34450182

Variant Present in the following documents:

• Main text
• nihms-1770686.pdf

View BVdb publication page

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Advancing a temporal framework for understanding the biology of nonsuicidal self- injury: An expert review.

Neuroscience And Biobehavioral Reviews

Kaess, Michael M; Hooley, Jill M JM; Klimes-Dougan, Bonnie B; Koenig, Julian J; Plener, Paul L PL; Reichl, Corinna C; Robinson, Kealagh K; Schmahl, Christian C; Sicorello, Maurizio M; Westlund Schreiner, Mindy M; Cullen, Kathryn R KR

Publication Date: 2021-11

Variant appearance in text: rs4633

PubMed Link: 34450182

Variant Present in the following documents:

• Main text
• nihms-1770686.pdf

View BVdb publication page

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Individualized Drugs' Selection by Evaluation of Drug Properties, Pharmacogenomics and Clinical Parameters: Performance of a Bioinformatic Tool Compared to a Clinically Established Counselling Process.

Pharmacogenomics And Personalized Medicine

Borro, Marina M; Gentile, Giovanna G; Preissner, Sally H SH; Pomes, Leda Marina LM; Gohlke, Björn-Oliver BO; Del Casale, Antonio A; Eckert, Andreas A; Marchetti, Paolo P; Preissner, Saskia S; Preissner, Robert R; Simmaco, Maurizio M

Publication Date: 2021

Variant appearance in text: rs4633

PubMed Link: 34385834

Variant Present in the following documents:

• Main text
• pgpm-14-955.pdf

View BVdb publication page

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A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease.

Blood Advances

Rampersaud, Evadnie E; Kang, Guolian G; Palmer, Lance E LE; Rashkin, Sara R SR; Wang, Shuoguo S; Bi, Wenjian W; Alberts, Nicole M NM; Anghelescu, Doralina D; Barton, Martha M; Birch, Kirby K; Boulos, Nidal N; Brandow, Amanda M AM; Brooke, Russell John RJ; Chang, Ti-Cheng TC; Chen, Wenan W; Cheng, Yong Y; Ding, Juan J; Easton, John J; Hodges, Jason R JR; Kanne, Celeste K CK; Levy, Shawn S; Mulder, Heather H; Patel, Ashwin P AP; Puri, Latika L; Rosencrance, Celeste C; Rusch, Michael M; Sapkota, Yadav Y; Sioson, Edgar E; Sharma, Akshay A; Tang, Xing X; Thrasher, Andrew A; Wang, Winfred W; Yao, Yu Y; Yasui, Yutaka Y; Yergeau, Donald D; Hankins, Jane S JS; Sheehan, Vivien A VA; Downing, James R JR; Estepp, Jeremie H JH; Zhang, Jinghui J; DeBaun, Michael M; Wu, Gang G; Weiss, Mitchell J MJ

Publication Date: 2021-07-27

Variant appearance in text: rs4633

PubMed Link: 34283174

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic and Proteinic Linkage of MAO and COMT with Oral Potentially Malignant Disorders and Cancers of the Oral Cavity and Pharynx.

Cancers

Chen, Ping-Ho PH; Wang, Yen-Yun YY; Lan, Ting-Hsun TH; Chan, Leong-Perng LP; Yuan, Shyng-Shiou SS

Publication Date: 2021-06-29

Variant appearance in text: rs4633

PubMed Link: 34209963

Variant Present in the following documents:

• Main text

View BVdb publication page

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New Psychoactive Substances and Suicidality: A Systematic Review of the Current Literature.

Medicina (Kaunas, Lithuania)

Chiappini, Stefania S; Mosca, Alessio A; Miuli, Andrea A; Santovito, Maria Chiara MC; Orsolini, Laura L; Corkery, John Martin JM; Guirguis, Amira A; Pettorruso, Mauro M; Martinotti, Giovanni G; Di Giannantonio, Massimo M; Schifano, Fabrizio F

Publication Date: 2021-06-06

Variant appearance in text: rs4633

PubMed Link: 34204131

Variant Present in the following documents:

• Main text
• medicina-57-00580.pdf

View BVdb publication page

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Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain.

Annals Of The Rheumatic Diseases

Rahman, Md Shafiqur MS; Winsvold, Bendik S BS; Chavez Chavez, Sergio O SO; Børte, Sigrid S; Tsepilov, Yakov A YA; Sharapov, Sodbo Zh SZ; , ; Aulchenko, Yurii S YS; Hagen, Knut K; Fors, Egil A EA; Hveem, Kristian K; Zwart, John Anker JA; van Meurs, Joyce B JB; Freidin, Maxim B MB; Williams, Frances Mk FM

Publication Date: 2021-09

Variant appearance in text: rs4633

PubMed Link: 33926923

Variant Present in the following documents:

• Main text

View BVdb publication page

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Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population.

Gigascience

Gaither, Jeffrey B S JBS; Lammi, Grant E GE; Li, James L JL; Gordon, David M DM; Kuck, Harkness C HC; Kelly, Benjamin J BJ; Fitch, James R JR; White, Peter P

Publication Date: 2021-04-05

Variant appearance in text: COMT: 186C>T; His62=; rs4633

PubMed Link: 33822938

Variant Present in the following documents:

• Main text

View BVdb publication page

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Arterial Blood Pressure Variability and Other Vascular Factors Contribution to the Cognitive Decline in Parkinson's Disease.

Molecules (Basel, Switzerland)

Pierzchlińska, Anna A; Kwaśniak-Butowska, Magdalena M; Sławek, Jarosław J; Droździk, Marek M; Białecka, Monika M

Publication Date: 2021-03-10

Variant appearance in text: rs4633

PubMed Link: 33802165

Variant Present in the following documents:

• Main text
• molecules-26-01523.pdf

View BVdb publication page

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A knowledge-based multivariate statistical method for examining gene-brain-behavioral/cognitive relationships: Imaging genetics generalized structured component analysis.

Plos One

Hwang, Heungsun H; Cho, Gyeongcheol G; Jin, Min Jin MJ; Ryoo, Ji Hoon JH; Choi, Younyoung Y; Lee, Seung Hwan SH

Publication Date: 2021

Variant appearance in text: rs4633

PubMed Link: 33690643

Variant Present in the following documents:

• Main text
• pone.0247592.pdf

View BVdb publication page

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Identification and analysis of RNA structural disruptions induced by single nucleotide variants using Riprap and RiboSNitchDB.

Nar Genomics And Bioinformatics

Lin, Jianan J; Chen, Yang Y; Zhang, Yuping Y; Ouyang, Zhengqing Z

Publication Date: 2020-09

Variant appearance in text: rs4633

PubMed Link: 33575608

Variant Present in the following documents:

• Main text

View BVdb publication page

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Candidate Genes for Age at Menarche Are Associated With Uterine Leiomyoma.

Frontiers In Genetics

Ponomarenko, Irina I; Reshetnikov, Evgeny E; Polonikov, Alexey A; Verzilina, Irina I; Sorokina, Inna I; Yermachenko, Anna A; Dvornyk, Volodymyr V; Churnosov, Mikhail M

Publication Date: 2020

Variant appearance in text: rs4633

PubMed Link: 33552117

Variant Present in the following documents:

• Main text
• fgene-11-512940.pdf

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: COMT: 186C>T; H62H; rs4633

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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