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
Identification and functional analysis of a new putative caveolin-3 variant found in a patient with sudden unexplained death.
Lariccia V et al.
Journal of Biomedical Science, 2014
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
Posch MG et al.
Plos One, 2011
22194935 (PubMed )
Supplement: pone.0028872.s001.pdf
Phenotypic variability in a Spanish family with a Caveolin-3 mutation.
González-Pérez P et al.
Journal of the Neurological Sciences, 2009
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