Varaico: Literature-Extracted Genetic Variants

Gene:RAPSN
Variant:p.P381_C382insFs
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RAPSN

NM_005055.5:p.P381_C382insFs

Associated Papers

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Beeson D et al.

Science (new York, N.y.), 2006

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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."