Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.D264insFs
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MYBPC3

NM_000256.3:p.D264insFs

Associated Papers

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

Genetic basis of hypertrophic cardiomyopathy in children.

Rupp S et al.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2019

A case of an infant with compound heterozygous mutations for hypertrophic cardiomyopathy producing a phenotype of left ventricular noncompaction.

Haberer K et al.

The Canadian Journal of Cardiology, 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."