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Ellis van Creveld syndrome
Identifiers
Symbol EVC
Entrez 2121
HUGO 3497
OMIM 604831
RefSeq NM_153717
UniProt P57679
Other data
Locus Chr. 4 p16

EVC is a gene associated with Ellis-van Creveld syndrome. It overlaps with the CRMP1 gene.[1]

[edit] References

  1. ^ Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J (March 2000). "Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis". Nat. Genet. 24 (3): 283–6. doi:10.1038/73508. PMID 10700184. http://dx.doi.org/10.1038/73508. 

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