Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.F731C
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CAPN3

NM_000070.3:p.F731C

Associated Papers

Demographic, clinical, and genetic characteristics of patients with Limb-Girdle Muscular Dystrophies (LGMD): A single tertiary-center experience.

Kale MY et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025

Experiences in the molecular genetic and histopathological evaluation of calpainopathies.

Ozyilmaz B et al.

Neurogenetics, 2022

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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."