Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.A1885_E1886Splc
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MYH7

NM_000257.4:p.A1885_E1886Splc

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

Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations.

Hershkovitz T et al.

American Journal of Medical Genetics. Part A, 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

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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."