Variant: rs1017946059 

    present in Gene: EVC
    present in Chromosome: 4
    Position on Chromosome: 5731657
    Alleles of this Variant: G/A

rs1017946059 in EVC gene and Ellis-Van Creveld Syndrome PMID 19744229 2010 A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.

PMID 23220543 2013 Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

rs1017946059 in EVC gene and Weyers acrofacial dysostosis PMID 19744229 2010 A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.