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- NCIT_C50946 IAO_0000115 "Human TYR wild-type allele is located within 11q14-q21 and is approximately 118 kb in length. This allele, which encodes tyrosinase protein, plays a role in the multi-step biosynthesis of melanin from tyrosine. Allelic variants of the TYR gene cause three different types of oculocutaneous albinism." @default.
- NCIT_C50946 NCIT_NHC0 "C50946" @default.
- NCIT_C50946 NCIT_P100 "606933" @default.
- NCIT_C50946 NCIT_P102 "NM_000372" @default.
- NCIT_C50946 NCIT_P106 "Gene or Genome" @default.
- NCIT_C50946 NCIT_P107 "TYR wt Allele" @default.
- NCIT_C50946 NCIT_P108 "TYR wt Allele" @default.
- NCIT_C50946 NCIT_P207 "C1710338" @default.
- NCIT_C50946 NCIT_P321 "7299" @default.
- NCIT_C50946 NCIT_P322 "CTRP" @default.
- NCIT_C50946 NCIT_P366 "TYR_wt_Allele" @default.
- NCIT_C50946 NCIT_P96 "Tyrosinase" @default.
- NCIT_C50946 NCIT_P98 "The three types of oculocutaneous albinism caused by tyrosinase deficiency are termed type IA (tyrosinase-negative), type IB (reduced tyrosinase activity) and type I temperature-sensitive." @default.
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- NCIT_C50946 hasExactSynonym "ATN" @default.
- NCIT_C50946 hasExactSynonym "CMM8" @default.
- NCIT_C50946 hasExactSynonym "OCA1" @default.
- NCIT_C50946 hasExactSynonym "OCA1A" @default.
- NCIT_C50946 hasExactSynonym "OCAIA" @default.
- NCIT_C50946 hasExactSynonym "SHEP3" @default.
- NCIT_C50946 hasExactSynonym "TYR wt Allele" @default.
- NCIT_C50946 hasExactSynonym "Tyrosinase (Oculocutaneous Albinism IA) Gene" @default.
- NCIT_C50946 hasExactSynonym "Tyrosinase wt Allele" @default.
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- NCIT_C50946 type Class @default.
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- NCIT_C50946 label "TYR wt Allele" @default.
- NCIT_C50946 subClassOf NCIT_C16612 @default.
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