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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAPN3

Variant:p.C137_L138delFs

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CAPN3

NM_000070.3:p.C137_L138delFs

hg38:chr15:42386191 TTGCC>T

Associated Papers

Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures.

Landires I et al.

Genes, 2020

31991774 (PubMed )

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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."