Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.S618_A629delFs
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MYH7

NM_000257.4:p.S618_A629delFs

Associated Papers

Common pathogenic mechanism in patients with dropped head syndrome caused by different mutations in the MYH7 gene.

Surikova Y et al.

Gene, 2019

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Fiorillo C et al.

Orphanet Journal of Rare Diseases, 2016

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.

Pajusalu S et al.

Neuromuscular Disorders : Nmd, 2016

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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."