Varaico: Literature-Extracted Genetic Variants

Gene:JSRP1
Variant:p.P108L
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JSRP1

NM_144616.4:p.P108L

Associated Papers

JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor.

Yasuda T et al.

Human Mutation, 2013

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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."