Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.L1793del1
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MYH7

NM_000257.4:p.L1793del1

Associated Papers

MYH7, c.2011C>T, is responsible for congenital scoliosis in a Chinese family.

Wei P et al.

Biochemistry and Biophysics Reports, 2024

Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations.

Yu M et al.

Orphanet Journal of Rare Diseases, 2020

[A case of Japanese Laing type distal myopathy with a mutation in MYH7 gene].

Hara K et al.

Rinsho Shinkeigaku = Clinical Neurology, 2019

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Lamont PJ et al.

Human Mutation, 2014

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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."