Varaico: Literature-Extracted Genetic Variants

Gene:ACHE
Variant:p.G447R
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ACHE

NM_000665.5:p.G447R

Associated Papers

Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations.

Shao S et al.

Current Neuropharmacology, 2023

36703579 (PubMed )
Supplement: CN-21-1594_SD1.pdf

Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.

Nakata T et al.

Human Mutation, 2013

[Clinical features of congenital myasthenic syndrome in Japan].

Irahara K et al.

No to Hattatsu = Brain and Development, 2012

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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."