Varaico: Literature-Extracted Genetic Variants

Gene:SPTLC2
Variant:p.H263R
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SPTLC2

NM_004863.4:p.H263R

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."