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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHAT

Variant:p.F313delFs

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CHAT

NM_020549.5:p.F313delFs

hg38:chr10:49627610 CTT>C

Associated Papers

A Case of Congenital Myasthenia Gravis due to ChAT Gene Mutation in a Term Neonate: A Case Report.

Soufan M et al.

Ajp Reports, 2024

39036811 (PubMed )

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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."