Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.A254E
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MYH7

NM_000257.4:p.A254E

Associated Papers

Identification of recurrent MYH7 variant hypertrophic cardiomyopathy patients in Korea: a case series.

Ryu SW et al.

Cardiovascular Diagnosis and Therapy, 2025

41509624 (PubMed )
Supplement: cdt-15-06-1174-supplementary.pdf

Clinical characteristics and mortality risk factors in pediatric hypertrophic, restrictive, and rapidly progressive hypertrophic cardiomyopathy: a retrospective cohort study with follow-up.

Nawaz A et al.

Frontiers in Cardiovascular Medicine, 2025

The clinical profile, genetic basis and survival of childhood cardiomyopathy: a single-center retrospective study.

Yuan W et al.

European Journal of Pediatrics, 2024

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1

Green tea extract catechin improves cardiac function in pediatric cardiomyopathy patients with diastolic dysfunction.

Quan J et al.

Journal of Biomedical Science, 2019

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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."