Varaico: Literature-Extracted Genetic Variants

Gene:ACHE
Variant:p.T269insFs
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ACHE

NM_000665.5:p.T269insFs

Associated Papers

Further observations in congenital myasthenic syndromes.

Engel AG et al.

Annals of the New York Academy of Sciences, 2008

The spectrum of mutations causing end-plate acetylcholinesterase deficiency.

Ohno K et al.

Annals of Neurology, 2000

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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."