Varaico: Literature-Extracted Genetic Variants

Gene:MYH11
Variant:p.E1180D
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MYH11

NM_001040113.2:p.E1180D

Associated Papers

Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.

Billon C et al.

Molecular Genetics and Genomics : Mgg, 2024

Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family.

Wang Q et al.

Journal of Human Genetics, 2019

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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."