Varaico: Literature-Extracted Genetic Variants

Gene:ACHE
Variant:p.W148*
Back to variants list

ACHE

NM_000665.5:p.W148*

Associated Papers

Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.

Yiş U et al.

Journal of Child Neurology, 2017

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.

Mihaylova V et al.

Brain : a Journal of Neurology, 2008

The spectrum of mutations causing end-plate acetylcholinesterase deficiency.

Ohno K et al.

Annals of Neurology, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."