Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.L1453P
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MYH7

NM_000257.4:p.L1453P

Associated Papers

MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.

Bahout M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2025

MYH7 in cardiomyopathy and skeletal muscle myopathy.

Gao Y et al.

Molecular and Cellular Biochemistry, 2024

Sarcomeric myopathies associated with tremor: new insights and perspectives.

Stavusis J et al.

Journal of Muscle Research and Cell Motility, 2020

Disease mutations in striated muscle myosins.

Parker F et al.

Biophysical Reviews, 2020

32651905 (PubMed )
Supplement: 12551_2020_721_MOESM1_ESM.pdf

A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family.

Lefter S et al.

Neuromuscular Disorders : Nmd, 2015

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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."