Varaico: Literature-Extracted Genetic Variants

Gene:MYH11
Variant:p.L1555V
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MYH11

NM_002474.3:p.L1555V

Associated Papers

Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.

Gilbert MA et al.

Human Mutation, 2020

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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."