Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.I457R
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MYH7

NM_000257.4:p.I457R

Associated Papers

Dominant myosin storage myopathy mutations disrupt striated muscles in Drosophila and the myosin tail-tail interactome of human cardiac thick filaments.

Viswanathan MC et al.

Genetics, 2025

MYH7 in cardiomyopathy and skeletal muscle myopathy.

Gao Y et al.

Molecular and Cellular Biochemistry, 2024

Variation p.R1045H in MYH7 correlated with hypertrophic cardiomyopathy in a Chinese pedigree.

Zhang Y et al.

Bmc Medical Genomics, 2021

A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report.

Mamelona J et al.

Bmc Medical Genetics, 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."