Varaico: Literature-Extracted Genetic Variants

Gene:CHRNE
Variant:p.N115Splc
Back to variants list

CHRNE

NM_000080.4:p.N115Splc

Associated Papers

Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes.

Guan J et al.

Brain & Development, 2025

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.

Müller JS et al.

Expert Reviews in Molecular Medicine, 2007

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.

Richard P et al.

Journal of Medical Genetics, 2003

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."