Publications:

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Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH7: Arg1832Cys

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: MYH7: 5494C>T; Arg1832Cys; rs201865159

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_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: MYH7: 5494C>T; Arg1832Cys; rs201865159

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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Genetic Etiology for Alcohol-Induced Cardiac Toxicity.

Journal Of The American College Of Cardiology

Ware, James S JS; Amor-Salamanca, Almudena A; Tayal, Upasana U; Govind, Risha R; Serrano, Isabel I; Salazar-Mendiguchía, Joel J; García-Pinilla, Jose Manuel JM; Pascual-Figal, Domingo A DA; Nuñez, Julio J; Guzzo-Merello, Gonzalo G; Gonzalez-Vioque, Emiliano E; Bardaji, Alfredo A; Manito, Nicolas N; López-Garrido, Miguel A MA; Padron-Barthe, Laura L; Edwards, Elizabeth E; Whiffin, Nicola N; Walsh, Roddy R; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Prasad, Sanjay S; Pantazis, Antonis A; Baski, John J; O'Regan, Declan P DP; Alonso-Pulpon, Luis L; Cook, Stuart A SA; Lara-Pezzi, Enrique E; Barton, Paul J PJ; Garcia-Pavia, Pablo P

Publication Date: 2018-05-22

Variant appearance in text: MYH7: 5494C>T; Arg1832Cys

PubMed Link: 29773157

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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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: MYH7: 5494C>T; Arg1832Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

European Journal Of Human Genetics : Ejhg

Andreasen, Charlotte C; Nielsen, Jonas B JB; Refsgaard, Lena L; Holst, Anders G AG; Christensen, Alex H AH; Andreasen, Laura L; Sajadieh, Ahmad A; Haunsø, Stig S; Svendsen, Jesper H JH; Olesen, Morten S MS

Publication Date: 2013-09

Variant appearance in text: MYH7: R1832C

PubMed Link: 23299917

Variant Present in the following documents:

• ejhg2012283a.pdf

View BVdb publication page

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The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.

European Journal Of Human Genetics : Ejhg

Møller, Daniel Vega DV; Andersen, Paal Skytt PS; Hedley, Paula P; Ersbøll, Mads Kristian MK; Bundgaard, Henning H; Moolman-Smook, Johanna J; Christiansen, Michael M; Køber, Lars L

Publication Date: 2009-10

Variant appearance in text: MYH7: R1832C

PubMed Link: 19293840

Variant Present in the following documents:

• Main text

View BVdb publication page

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