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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAPN3

Variant:p.D707A

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CAPN3

NM_000070.3:p.D707A

hg38:chr15:42410432 A>C

Associated Papers

Two Novel Variants of the CAPN3 Gene in Chinese Patients with Limb-Girdle Muscular Dystrophy Recessive 1.

Zhang L et al.

Human Heredity, 2024

38830343 (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."