Variant: rs753014919

present in Gene: CRMP1;EVC present in Chromosome: 4 Position on Chromosome: 5783682 Alleles of this Variant: C/-

rs753014919 in CRMP1;EVC gene and Ellis-Van Creveld Syndrome PMID 23220543 2013 Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

rs753014919 in CRMP1;EVC gene and Weyers acrofacial dysostosis PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

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