ID   HPS1943
AC   CVCL_C9QD
DR   RCB; HPS1943
DR   Wikidata; Q123031969
CC   Sequence variation: Mutation; HGNC; HGNC:10808; SGCE; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS1943).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C201596; Dystonia 11, myoclonic
DI   ORDO; Orphanet_36899; Myoclonus-dystonia syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C9QC ! HPS1942
OI   CVCL_C9QE ! HPS1944
OI   CVCL_C9QF ! HPS1945
OI   CVCL_C9QG ! HPS1946
OI   CVCL_C9QH ! HPS1947
SX   Male
AG   20-29Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
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