Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA1
Variant:p.A417P
Back to variants list

CHRNA1

NM_000079.4:p.A417P

Associated Papers

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

Hoffmann K et al.

American Journal of Human Genetics, 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."