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- NCIT_C50966 IAO_0000115 "Human HPRT1 wild-type allele is located in the vicinity of Xq26.1 and is approximately 40 kb in length. This allele, which encodes hypoxanthine-guanine phosphoribosyltransferase protein, plays a role in purine salvage. Certain allelic variants of the HPRT1 gene cause HPRT-related gout or Lesch-Nyhan syndrome." @default.
- NCIT_C50966 NCIT_NHC0 "C50966" @default.
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- NCIT_C50966 NCIT_P106 "Gene or Genome" @default.
- NCIT_C50966 NCIT_P107 "HPRT1 wt Allele" @default.
- NCIT_C50966 NCIT_P108 "HPRT1 wt Allele" @default.
- NCIT_C50966 NCIT_P207 "C1704831" @default.
- NCIT_C50966 NCIT_P321 "3251" @default.
- NCIT_C50966 NCIT_P322 "CTRP" @default.
- NCIT_C50966 NCIT_P366 "HPRT1_wt_Allele" @default.
- NCIT_C50966 NCIT_P96 "Hypoxanthine Phosphoribosyltransferase 1" @default.
- NCIT_C50966 NCIT_P98 "Gene_Has_Function: Purine Salvage" @default.
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- NCIT_C50966 normalizedInformationContent "100" @default.
- NCIT_C50966 referenceCount "1" @default.
- NCIT_C50966 hasExactSynonym "HGPRT" @default.
- NCIT_C50966 hasExactSynonym "HPRT" @default.
- NCIT_C50966 hasExactSynonym "HPRT1 wt Allele" @default.
- NCIT_C50966 hasExactSynonym "Hypoxanthine Phosphoribosyltransferase 1 (Lesch-Nyhan Syndrome) wt Allele" @default.
- NCIT_C50966 inSubset NCIT_C116977 @default.
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- NCIT_C50966 type Class @default.
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- NCIT_C50966 label "HPRT1 wt Allele" @default.
- NCIT_C50966 subClassOf NCIT_C16612 @default.
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