Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.R945fs
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MYBPC3

NM_000256.3:p.R945fs

Associated Papers

Metabolic remodeling and calcium handling abnormality in induced pluripotent stem cell-derived cardiomyocytes in dilated phase of hypertrophic cardiomyopathy with MYBPC3 frameshift mutation.

Mori H et al.

Scientific Reports, 2024

Hypertrophic cardiomyopathy in MYBPC3 carriers in aging.

Ananthamohan K et al.

The Journal of Cardiovascular Aging, 2024

Myocardial ultrastructure can augment genetic testing for sporadic dilated cardiomyopathy with initial heart failure.

Saito T et al.

Esc Heart Failure, 2021

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

Incidence, Clinical Characteristics, and Long-term Outcome of the Dilated Phase of Hypertrophic Cardiomyopathy.

Aizawa Y et al.

The Keio Journal of Medicine, 2019

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

Gender differences in the clinical features of hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.

Terauchi Y et al.

Journal of Cardiology, 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

Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy.

Kubo T et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2011

A novel cardiac myosin-binding protein C S297X mutation in hypertrophic cardiomyopathy.

Hirota T et al.

Journal of Cardiology, 2010

A novel custom resequencing array for dilated cardiomyopathy.

Zimmerman RS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010

Hypertrophic cardiomyopathy in the elderly.

Kubo T et al.

Geriatrics & Gerontology International, 2010

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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."