Varaico: Literature-Extracted Genetic Variants

Gene:RAPSN
Variant:p.G122E
Back to variants list

RAPSN

NM_005055.5:p.G122E

Associated Papers

The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.

Müller JS et al.

Journal of Medical Genetics, 2004

Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders.

Ohno K et al.

Journal of Medical Genetics, 2004

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."