Varaico: Literature-Extracted Genetic Variants

Gene:CHRNE
Variant:p.V430G
Back to variants list

CHRNE

NM_000080.4:p.V430G

Associated Papers

Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature.

Batheja A et al.

Ophthalmic Genetics, 2024

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."