Varaico: Literature-Extracted Genetic Variants

Gene:RAPSN
Variant:p.Q5R
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RAPSN

NM_005055.5:p.Q5R

Associated Papers

Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.

Lam CW et al.

European Journal of Human Genetics : Ejhg, 2017

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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."