Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.A726S
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CAPN3

NM_000070.3:p.A726S

Associated Papers

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Johnson K et al.

Orphanet Journal of Rare Diseases, 2017

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