Varaico: Literature-Extracted Genetic Variants

Gene:RAPSN
Variant:p.G2insFs
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RAPSN

NM_005055.5:p.G2insFs

Associated Papers

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

Liao X et al.

Biomolecules & Biomedicine, 2023

Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN.

Saito M et al.

Brain & Development, 2022

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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."