EVC (gene)
| Ellis van Creveld syndrome | |
|---|---|
 EVC gene and its neighbors on chromosome 4p16 | |
| 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]
References
- ↑ 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.
See also
External links
- EVC protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)