Varaico: Literature-Extracted Genetic Variants

Gene:COG3
Variant:p.H239_P240Splc
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COG3

NM_031431.4:p.H239_P240Splc

Associated Papers

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

Sáenz A et al.

Brain : a Journal of Neurology, 2005

Calpainopathy-a survey of mutations and polymorphisms.

Richard I et al.

American Journal of Human Genetics, 1999

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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."