Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.T501I
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CAPN3

NM_000070.3:p.T501I

Associated Papers

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study.

Hunn SM et al.

Annals of Clinical and Translational Neurology, 2025

40237364 (PubMed )
Supplement: ACN3-12-1179-s001.pdf

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8

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

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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."