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- NCIT_C127846 IAO_0000115 "Human OPHN1 wild-type allele is located in the vicinity of Xq12 and is approximately 392 kb in length. This allele, which encodes oligophrenin-1 protein, is involved in the regulation of small GTPase mediated signal transduction. Mutation of the gene is associated with X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism." @default.
- NCIT_C127846 NCIT_NHC0 "C127846" @default.
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- NCIT_C127846 NCIT_P102 "AJ001189" @default.
- NCIT_C127846 NCIT_P106 "Gene or Genome" @default.
- NCIT_C127846 NCIT_P107 "OPHN1 wt Allele" @default.
- NCIT_C127846 NCIT_P108 "OPHN1 wt Allele" @default.
- NCIT_C127846 NCIT_P208 "CL509518" @default.
- NCIT_C127846 NCIT_P321 "4983" @default.
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- NCIT_C127846 hasExactSynonym "ARHGAP41" @default.
- NCIT_C127846 hasExactSynonym "MRX60" @default.
- NCIT_C127846 hasExactSynonym "Mental Retardation, X-Linked 60 Gene" @default.
- NCIT_C127846 hasExactSynonym "OPHN1 wt Allele" @default.
- NCIT_C127846 hasExactSynonym "OPN1" @default.
- NCIT_C127846 hasExactSynonym "Oligophrenin 1 wt Allele" @default.
- NCIT_C127846 hasExactSynonym "Oligophrenin-1, Rho-GTPase Activating Protein Gene" @default.
- NCIT_C127846 inSubset NCIT_C116977 @default.
- NCIT_C127846 inSubset NCIT_C142799 @default.
- NCIT_C127846 inSubset NCIT_C142800 @default.
- NCIT_C127846 type Class @default.
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- NCIT_C127846 label "OPHN1 wt Allele" @default.
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