Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.Q166_F167Splc
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CAPN3

NM_000070.3:p.Q166_F167Splc

Associated Papers

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

Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.

Groen EJ et al.

Brain : a Journal of Neurology, 2007

Screening of the CAPN3 gene in patients with possible LGMD2A.

Krahn M et al.

Clinical Genetics, 2006

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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."