Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.G755Splc
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CAPN3

NM_000070.3:p.G755Splc

Associated Papers

CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.

Salem IH et al.

Journal of Human Genetics, 2012

Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.

Groen EJ et al.

Brain : a Journal of Neurology, 2007

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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."