Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.G161delFs
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CAPN3

NM_000070.3:p.G161delFs

Associated Papers

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

Inashkina I et al.

Bmc Musculoskeletal Disorders, 2016

27142102 (PubMed )
Supplement: 12891_2016_1058_MOESM1_ESM.docx

Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.

Nilsson MI et al.

Plos One, 2014

Screening of the CAPN3 gene in patients with possible LGMD2A.

Krahn M et al.

Clinical Genetics, 2006

SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.

Papić L et al.

European Journal of Medical Genetics, 0

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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."