Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.Q738*
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CAPN3

NM_000070.3:p.Q738*

Associated Papers

A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort.

Şahin İO et al.

Turkish Journal of Medical Sciences, 2024

Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India.

Ganaraja VH et al.

Global Medical Genetics, 2022

Calpain-3 mutations in Turkey.

Balci B et al.

European Journal of Pediatrics, 2006

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

Piluso G et al.

Journal of Medical Genetics, 2005

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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."