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- NCIT_C201109 IAO_0000115 "Human EVC2 wild-type allele is located in the vicinity of 4p16.2 and is approximately 181 kb in length. This allele, which encodes limbin protein, plays a role in the ciliary hedgehog signaling pathway. Mutations in the gene are associated with both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis." @default.
- NCIT_C201109 NCIT_NHC0 "C201109" @default.
- NCIT_C201109 NCIT_P100 "607261" @default.
- NCIT_C201109 NCIT_P102 "AB083067" @default.
- NCIT_C201109 NCIT_P106 "Gene or Genome" @default.
- NCIT_C201109 NCIT_P108 "EVC2 wt Allele" @default.
- NCIT_C201109 NCIT_P321 "132884" @default.
- NCIT_C201109 NCIT_P98 "The human EVC and EVC2 genes are arranged in a head-to-head configuration with transcription start sites separated by approximately 2.6 kb. (OMIM)" @default.
- NCIT_C201109 NCIT_R130 NCIT_C17132 @default.
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- NCIT_C201109 referenceCount "1" @default.
- NCIT_C201109 hasExactSynonym "EVC2 wt Allele" @default.
- NCIT_C201109 hasExactSynonym "Ellis Van Creveld Syndrome 2 Gene" @default.
- NCIT_C201109 hasExactSynonym "EvC Ciliary Complex Subunit 1 wt Allele" @default.
- NCIT_C201109 hasExactSynonym "EvC Ciliary Complex Subunit 2 wt Allele" @default.
- NCIT_C201109 hasExactSynonym "LBN" @default.
- NCIT_C201109 hasExactSynonym "WAD" @default.
- NCIT_C201109 type Class @default.
- NCIT_C201109 isDefinedBy ncit.owl @default.
- NCIT_C201109 label "EVC2 wt Allele" @default.
- NCIT_C201109 subClassOf B4bed4035f184f7815397d4ba2a983179 @default.
- NCIT_C201109 subClassOf B9a79f25ffbec5d3622566624d4aab4b6 @default.
- NCIT_C201109 subClassOf NCIT_C16612 @default.
- NCIT_C201109 subClassOf NCIT_C201108 @default.
- NCIT_C201109 subClassOf NCIT_C201109 @default.
- NCIT_C201109 subClassOf NCIT_C20921 @default.