Varaico: Literature-Extracted Genetic Variants

Gene:ACHE
Variant:p.D421_P422insFs
Back to variants list

ACHE

NM_000665.5:p.D421_P422insFs

Associated Papers

Variable phenotypes associated with mutations in DOK7.

Anderson JA et al.

Muscle & Nerve, 2008

Clinical features of the DOK7 neuromuscular junction synaptopathy.

Palace J et al.

Brain : a Journal of Neurology, 2007

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Beeson D et al.

Science (new York, N.y.), 2006

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."