Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.F165F
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CAPN3

NM_000070.3:p.F165F

Associated Papers

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

Jaka O et al.

Muscle & Nerve, 2014

Screening of the CAPN3 gene in patients with possible LGMD2A.

Krahn M et al.

Clinical Genetics, 2006

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

Piluso G et al.

Journal of Medical Genetics, 2005

Calpainopathy-a survey of mutations and polymorphisms.

Richard I et al.

American Journal of Human Genetics, 1999

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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."