Varaico: Literature-Extracted Genetic Variants

Gene:RAPSN
Variant:p.A25V
Back to variants list

RAPSN

NM_005055.5:p.A25V

Associated Papers

The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.

Liao X et al.

Biomolecules & Biomedicine, 2023

Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair.

Pavone P et al.

Bmj Case Reports, 2013

Congenital myasthenic syndromes and the formation of the neuromuscular junction.

Beeson D et al.

Annals of the New York Academy of Sciences, 2008

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

Müller JS et al.

Expert Reviews in Molecular Medicine, 2007

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.

Cossins J et al.

Brain : a Journal of Neurology, 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."