Varaico: Literature-Extracted Genetic Variants

Gene:RAPSN
Variant:p.Y105F
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RAPSN

NM_005055.5:p.Y105F

Associated Papers

A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome.

Xing G et al.

Elife, 2019

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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."