ID   HPS2452
AC   CVCL_C9YF
DR   RCB; HPS2452
DR   Wikidata; Q123032201
CC   Sequence variation: Mutation; HGNC; HGNC:11799; THRB; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2452).
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_C9YB ! HPS2448
OI   CVCL_C9YC ! HPS2449
OI   CVCL_C9YD ! HPS2450
OI   CVCL_C9YE ! HPS2451
OI   CVCL_C9YG ! HPS2453
SX   Female
AG   20-29Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
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