ID   HPS2896
AC   CVCL_A3WQ
DR   RCB; HPS2896
DR   Wikidata; Q105508982
CC   Sequence variation: Mutation; HGNC; HGNC:4241; GFPT1; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2896).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168997; Congenital myasthenic syndrome 12
DI   ORDO; Orphanet_353327; Congenital myasthenic syndromes with glycosylation defect
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UP24 ! HPS2894
OI   CVCL_A3WP ! HPS2895
OI   CVCL_A3WR ! HPS2897
OI   CVCL_A3WS ! HPS2898
OI   CVCL_A3WT ! HPS2899
SX   Male
AG   20-29Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 5
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