Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.C1266R
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MYBPC3

NM_000256.3:p.C1266R

Associated Papers

Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study.

Chumakova OS et al.

Genes, 2023

38002985 (PubMed )
Supplement: genes-14-02042-s001.zip › genes-2645868-supplementary.pdf

[The levels of certain circulating microRNAs in hypertrophic cardiomyopathy are associated with echocardiographic parameters].

Pisklova MV et al.

Terapevticheskii Arkhiv, 2023

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.

Wessels MW et al.

European Journal of Human Genetics : Ejhg, 2015

Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors.

Maron BJ et al.

Heart Rhythm, 2012

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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."