Publications:

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: MYBPC3: K202Q

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation

Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R

Publication Date: 2020-02-04

Variant appearance in text: MYBPC3: 604A>C; Lys202Gln

PubMed Link: 31983221

Variant Present in the following documents:

• cir-141-387-s002.xlsx, sheet 7
• cir-141-387-s002.xlsx, sheet 3

View BVdb publication page

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Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.

Journal Of The American Heart Association

Ramchand, Jay J; Wallis, Mathew M; Macciocca, Ivan I; Lynch, Elly E; Farouque, Omar O; Martyn, Melissa M; Phelan, Dean D; Chong, Belinda B; Lockwood, Siobhan S; Weintraub, Robert R; Thompson, Tina T; Trainer, Alison A; Zentner, Dominica D; Vohra, Jitendra J; Chetrit, Michael M; Hare, David L DL; James, Paul P

Publication Date: 2020-01-21

Variant appearance in text: MYBPC3: 604A>C; Lys202Gln

PubMed Link: 31931689

Variant Present in the following documents:

• JAH3-9-e013346-s001.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: MYBPC3: 604A>C; K202Q

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: MYBPC3: 604A>C; Lys202Gln; rs730880623

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MYBPC3: 604A>C; Lys202Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.

Circulation. Cardiovascular Genetics

Hershberger, Ray E RE; Norton, Nadine N; Morales, Ana A; Li, Duanxiang D; Siegfried, Jill D JD; Gonzalez-Quintana, Jorge J

Publication Date: 2010-04

Variant appearance in text: MYBPC3: Lys202Gln

PubMed Link: 20215591

Variant Present in the following documents:

• Main text

View BVdb publication page

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