Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.R334G
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CHAT

NM_020549.5:p.R334G

Associated Papers

Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.

Akçay AA et al.

Clinical Genetics, 2025

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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."