Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.A244V
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CAPN3

NM_000070.3:p.A244V

Associated Papers

Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.

Liu Y et al.

Bmc Oral Health, 2024

38280992 (PubMed )
Supplement: 12903_2024_3888_MOESM2_ESM.xls › Supplementary_Table_1

Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.

Rufibach L et al.

Journal of Personalized Medicine, 2023

36983702 (PubMed )
Supplement: jpm-13-00520-s001.zip › Supplementary_tables_S1-S4.xlsx › Table_S3_-_Clinical_data
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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."