Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.I112I
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CAV3

NM_033337.3:p.I112I

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.

Hedley PL et al.

Circulation. Cardiovascular Genetics, 2013

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