Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.D764delFs
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CAPN3

NM_000070.3:p.D764delFs

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

Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.

Alcántara-Ortigoza MA et al.

Genes, 2019

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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."