Varaico: Literature-Extracted Genetic Variants

Gene:RAPSN
Variant:p.L326P
Back to variants list

RAPSN

NM_005055.5:p.L326P

Associated Papers

Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN.

Zhang Z et al.

Molecular Genetics & Genomic Medicine, 2024

Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation.

Xing G et al.

Neuron, 2021

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

Milone M et al.

Neurology, 2009

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."