Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.P226_T228delFs
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CHAT

NM_020549.5:p.P226_T228delFs

Associated Papers

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.

Schara U et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2010

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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."