Varaico: Literature-Extracted Genetic Variants

Gene:CHRND
Variant:p.E24insFs
Back to variants list

CHRND

NM_000751.3:p.E24insFs

Associated Papers

Congenital myasthenic syndrome: a brief review.

Lorenzoni PJ et al.

Pediatric Neurology, 2012

126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.

Beeson D et al.

Neuromuscular Disorders : Nmd, 2005

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."