Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.D553_A562del10
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MYBPC3

NM_000256.3:p.D553_A562del10

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

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

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

Genetics of hypertrophic cardiomyopathy in Norway.

Berge KE et al.

Clinical Genetics, 2014

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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."