Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.E31V
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NHLRC1

NM_198586.3:p.E31V

Associated Papers

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

Kubisch C et al.

Annals of Neurology, 2003

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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."