Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.D48V
Back to variants list

MYBPC3

NM_000256.3:p.D48V

Associated Papers

Actionable genomic variants in 6045 participants from the Qatar Genome Program.

Elfatih A et al.

Human Mutation, 2021

Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?

Azevedo O et al.

American Heart Journal, 2020

Postmortem genetic analysis of sudden unexplained death syndrome under 50 years of age: A next-generation sequencing study.

Hata Y et al.

Heart Rhythm, 2016

Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.

Smid BE et al.

Clinical Genetics, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."