Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.W1086*
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MYBPC3

NM_000256.3:p.W1086*

Associated Papers

Genetic determinants of the phenotype in a Swedish cohort of patients with hypertrophic cardiomyopathy.

Antheia K et al.

Scientific Reports, 2025

41214182 (PubMed )
Supplement: 41598_2025_27238_MOESM1_ESM.pdf

Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.

Allouba M et al.

European Heart Journal, 2023

37431535 (PubMed )
Supplement: ehad372_supplementary_data.zip › supplementary_tables_revised_version_Feb2023.xlsx › Table_S4

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

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Tadros R et al.

Nature Genetics, 2021

33495596 (PubMed )
Supplement: EMS114661-supplement-Supplementary_Tables.xlsx › ST2

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.

Helms AS et al.

Circulation. Genomic and Precision Medicine, 2020

32841044 (PubMed )
Supplement: hcg-13-396-s001.pdf

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.

Walsh R et al.

Genome Medicine, 2019

30696458 (PubMed )
Supplement: 13073_2019_616_MOESM1_ESM.xlsx › Table_S6

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
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."