Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.Q435*
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MYBPC3

NM_000256.3:p.Q435*

Associated Papers

Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.

Wang J et al.

Precision Clinical Medicine, 2025

40860236 (PubMed )
Supplement: pbaf019_supplemental_files.zip › Supplemental_Tables.pdf

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S8

Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.

Patel AP et al.

Jama Cardiology, 2022

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1A

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Taylor JC et al.

Nature Genetics, 2015

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Lopes LR et al.

Journal of Medical Genetics, 2013

23396983 (PubMed )
Supplement: jmedgenet-2012-101270-s2.pdf
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