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- NCIT_C177669 IAO_0000115 "Human RAPSN wild-type allele is located in the vicinity of 11p11.2 and is approximately 11 kb in length. This allele, which encodes 43 kDa receptor-associated protein of the synapse protein, is involved in nicotinic acetylcholine receptor clustering. Mutations in the gene are associated with fetal akinesia deformation sequence 2 and congenital myasthenic syndrome with acetylcholine receptor deficiency 11." @default.
- NCIT_C177669 NCIT_NHC0 "C177669" @default.
- NCIT_C177669 NCIT_P100 "601592" @default.
- NCIT_C177669 NCIT_P102 "NM_005055" @default.
- NCIT_C177669 NCIT_P106 "Gene or Genome" @default.
- NCIT_C177669 NCIT_P108 "RAPSN wt Allele" @default.
- NCIT_C177669 NCIT_P208 "CL1643450" @default.
- NCIT_C177669 NCIT_P321 "5913" @default.
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- NCIT_C177669 NCIT_R40 NCIT_C32221 @default.
- NCIT_C177669 NCIT_R40 NCIT_C34070 @default.
- NCIT_C177669 NCIT_R41 NCIT_C14182 @default.
- NCIT_C177669 NCIT_R41 NCIT_C14225 @default.
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- NCIT_C177669 NCIT_R41 NCIT_C14250 @default.
- NCIT_C177669 NCIT_R41 NCIT_C14262 @default.
- NCIT_C177669 NCIT_R41 NCIT_C14282 @default.
- NCIT_C177669 NCIT_R41 NCIT_C25796 @default.
- NCIT_C177669 NCIT_R41 NCIT_C79740 @default.
- NCIT_C177669 normalizedInformationContent "100" @default.
- NCIT_C177669 referenceCount "1" @default.
- NCIT_C177669 hasExactSynonym "CMS11" @default.
- NCIT_C177669 hasExactSynonym "FADS" @default.
- NCIT_C177669 hasExactSynonym "FADS2" @default.
- NCIT_C177669 hasExactSynonym "RAPSN wt Allele" @default.
- NCIT_C177669 hasExactSynonym "RAPSYN" @default.
- NCIT_C177669 hasExactSynonym "RNF205" @default.
- NCIT_C177669 hasExactSynonym "Receptor Associated Protein of the Synapse wt Allele" @default.
- NCIT_C177669 hasExactSynonym "Receptor-Associated Protein of the Synapse, 43-kD Gene" @default.
- NCIT_C177669 hasExactSynonym "Receptor-Associated Protein of the Synapse, 43kD Gene" @default.
- NCIT_C177669 type Class @default.
- NCIT_C177669 isDefinedBy ncit.owl @default.
- NCIT_C177669 label "RAPSN wt Allele" @default.
- NCIT_C177669 subClassOf B0a29ad66a7f5a49eb46693185ff63ff1 @default.
- NCIT_C177669 subClassOf B17874f9d5a33d70c102a5d6140c8613c @default.
- NCIT_C177669 subClassOf NCIT_C16612 @default.
- NCIT_C177669 subClassOf NCIT_C177668 @default.
- NCIT_C177669 subClassOf NCIT_C177669 @default.
- NCIT_C177669 subClassOf NCIT_C20744 @default.