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Ellis van Creveld syndrome
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| 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:. PMID 10700184. http://dx.doi.org/10.1038/73508.
See also
External links
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