ID   HPS2876
AC   CVCL_A3JS
DR   RCB; HPS2876
DR   Wikidata; Q105508946
CC   Sequence variation: Mutation; HGNC; 2348; CREBBP; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2876).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C153290; Rubinstein-Taybi syndrome type 1
DI   ORDO; Orphanet_353277; Rubinstein-Taybi syndrome due to CREBBP mutations
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A3JT ! HPS2877
OI   CVCL_A3JU ! HPS2878
OI   CVCL_A3JV ! HPS2879
OI   CVCL_A3JW ! HPS2880
OI   CVCL_A3JX ! HPS2881
SX   Female
AG   10-19Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 4
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