Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.D344H
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CHAT

NM_020549.5:p.D344H

Associated Papers

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.

McMacken G et al.

Journal of Neurology, 2018

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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."