Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.D452Splc
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CAPN3

NM_000070.3:p.D452Splc

Associated Papers

Recurrent CAPN3 p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity.

D'Este G et al.

International Journal of Molecular Sciences, 2025

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Tang R et al.

Advances in Bioinformatics, 2016

27313609 (PubMed )
Supplement: 5614058.f1.pdf
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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."