Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.S593fs
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MYBPC3

NM_000256.3:p.S593fs

Associated Papers

Morphological and Genetic Aspects for Post-Mortem Diagnosis of Hypertrophic Cardiomyopathy: A Systematic Review.

Cianci V et al.

International Journal of Molecular Sciences, 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

Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.

Tobita T et al.

Scientific Reports, 2018

29386531 (PubMed )
Supplement: 41598_2018_20114_MOESM1_ESM.pdf

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

Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.

Otsuka H et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2012

Multicenter study of the prevalence and distribution of sarcometric gene mutations in familial hypertrophic cardiomyopathy: – a milestone for genetic diagnosis in the Japanese population –.

Niwano S

Circulation Journal : Official Journal of the Japanese Circulation Society, 2012

Hypertrophic cardiomyopathy in the elderly.

Kubo T et al.

Geriatrics & Gerontology International, 2010

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