ID   GM27934
AC   CVCL_A2TP
SY   GM27934*B
DR   Coriell; GM27934
DR   Wikidata; Q105507412
CC   Sequence variation: Mutation; HGNC; HGNC:888; KIF1A; Simple; p.Glu253Lys (c.757G>A); ClinVar=VCV000162059; Zygosity=Heterozygous (Coriell=GM27934).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C133742; Mental retardation, autosomal dominant 9
DI   ORDO; Orphanet_178469; Autosomal dominant non-syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
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