ID   HPS1674
AC   CVCL_C9SE
DR   RCB; HPS1674
DR   Wikidata; Q123031931
CC   Sequence variation: Mutation; HGNC; 11799; THRB; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS1674).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C131816; Generalized thyroid hormone resistance
DI   ORDO; Orphanet_3221; Generalized resistance to thyroid hormone
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C9SD ! HPS1673
OI   CVCL_C9SF ! HPS1675
OI   CVCL_C9SG ! HPS1676
OI   CVCL_C9SH ! HPS1677
OI   CVCL_C9SI ! HPS1678
SX   Female
AG   50-59Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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