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- NCIT_C51484 IAO_0000115 "Human GHR wild-type allele is located within 5p13-p12 and is approximately 302 kb in length. This allele, which encodes growth hormone receptor protein, plays a role in signal transduction and in growth hormone receptor regulation that leads to cellular growth." @default.
- NCIT_C51484 NCIT_NHC0 "C51484" @default.
- NCIT_C51484 NCIT_P100 "600946" @default.
- NCIT_C51484 NCIT_P102 "NM_000163" @default.
- NCIT_C51484 NCIT_P106 "Gene or Genome" @default.
- NCIT_C51484 NCIT_P107 "GHR wt Allele" @default.
- NCIT_C51484 NCIT_P108 "GHR wt Allele" @default.
- NCIT_C51484 NCIT_P207 "C1708120" @default.
- NCIT_C51484 NCIT_P321 "2690" @default.
- NCIT_C51484 NCIT_P322 "CTRP" @default.
- NCIT_C51484 NCIT_P366 "GHR_wt_Allele" @default.
- NCIT_C51484 NCIT_P96 "Growth Hormone Receptor" @default.
- NCIT_C51484 NCIT_P98 "A common alternate allele of this gene, called GHRd3, lacks exon three and has been well-characterized. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature." @default.
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- NCIT_C51484 referenceCount "1" @default.
- NCIT_C51484 hasExactSynonym "GHBP" @default.
- NCIT_C51484 hasExactSynonym "GHR wt Allele" @default.
- NCIT_C51484 hasExactSynonym "Growth Hormone Receptor wt Allele" @default.
- NCIT_C51484 inSubset NCIT_C116977 @default.
- NCIT_C51484 inSubset NCIT_C142799 @default.
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- NCIT_C51484 type Class @default.
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- NCIT_C51484 label "GHR wt Allele" @default.
- NCIT_C51484 subClassOf NCIT_C16612 @default.
- NCIT_C51484 subClassOf NCIT_C20103 @default.
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