KEGG   VARIANT: 79228v1
Entry
79228v1                      Variant                               
Name
THOC6 mutation
Type
Loss of function
Gene
THOC6  THO complex subunit 6 [KO:K13175]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 615403
Network
nt06547  Spliceosome
Disease
H02253  Beaulieu-Boycott-Innes syndrome
Reference
PMID:23621916
  Authors
Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J, Majewski J, Bulman DE, Parboosingh JS, Boycott KM
  Title
Intellectual disability associated with a homozygous missense mutation in THOC6.
  Journal
Orphanet J Rare Dis 8:62 (2013)
DOI:10.1186/1750-1172-8-62
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