Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.S593delFs
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MYBPC3

NM_000256.3:p.S593delFs

Associated Papers

Integrating ECG Into the Mayo Score Enhances Genotype Prediction in Hypertrophic Cardiomyopathy.

Hiruma T et al.

Journal of the American Heart Association, 2026

Unveiling Clinical and Genetic Distinctions in Pure-Apical Versus Distal-Dominant Apical Hypertrophic Cardiomyopathy.

Sugiura K et al.

Journal of the American Heart Association, 2025

40055852 (PubMed )
Supplement: JAH3-14-e038208-s001.pdf

Association of Multiple Nonhypertrophic Cardiomyopathy-Related Genetic Variants and Outcomes in Patients With Hypertrophic Cardiomyopathy.

Hiruma T et al.

Jacc. Heart Failure, 2024

Hypertrophic cardiomyopathy in MYBPC3 carriers in aging.

Ananthamohan K et al.

The Journal of Cardiovascular Aging, 2024

A Validation Study of the Mayo Clinic Phenotype-Based Genetic Test Prediction Score for Japanese Patients With Hypertrophic Cardiomyopathy.

Moriki T et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2021

Lifelong Clinical Impact of the Presence of Sarcomere Gene Mutation in Japanese Patients With Hypertrophic Cardiomyopathy.

Nakashima Y et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2020

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

A novel mutation in the cardiac myosin-binding protein C gene is responsible for hypertrophic cardiomyopathy with severe ventricular hypertrophy and sudden death.

Konno T et al.

Clinical Science (london, England : 1979), 2006

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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."