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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking NECTIN1 and cleft lip in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Suzuki K, etal., Nat Genet. 2000 Aug;25(4):427-30.
  • 8 additional annotations were made from Suzuki K, etal., Nat Genet. 2000 Aug;25(4):427-30.
  • 74 RGD objects have been annotated to cleft lip  (DOID:9296)
  • 6 papers in RGD have been used to annotate NECTIN1
  • Curation Notes: cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X


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