ID   GM28225
AC   CVCL_D3AA
DR   Coriell; GM28225
DR   Wikidata; Q127380913
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:30778; GATAD2B; Simple; p.Ser135Argfs*17 (c.405_406delTCinsG); Zygosity=Heterozygous (Coriell=GM28225).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C202606; Mental retardation, autosomal dominant 18
DI   ORDO; Orphanet_363686; Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Transformed cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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