ID   CG1254
AC   CVCL_LG73
DR   BCRC; 60467
DR   Wikidata; Q54811515
CC   Sequence variation: Mutation; HGNC; HGNC:9752; QDPR; Simple; p.Thr233Pro (c.697A>C); Zygosity=Unspecified (BCRC=60467).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C138173; Hyperphenylalaninemia, BH4-deficient C
DI   ORDO; Orphanet_226; Dihydropteridine reductase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Transformed cell line
DT   Created: 15-11-17; Last updated: 19-12-24; Version: 11
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