Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.E1687del1
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MYH7

NM_000257.4:p.E1687del1

Associated Papers

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

Wei P et al.

Biochemistry and Biophysics Reports, 2024

Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients.

Wang Q et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

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

MYH7 mutation associated with two phenotypes of myopathy.

Li N et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018

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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."