KEGG   VARIANT: 63035v1
Entry
63035v1                      Variant                               
Name
BCORL1 mutation
Type
Loss of function
Gene
BCORL1  BCL6 corepressor like 1 [KO:K26199]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300688
Network
nt06523  Epigenetic regulation by Polycomb complexes
Disease
H02622  Shukla-Vernon syndrome
Reference
  Authors
Shukla A, Girisha KM, Somashekar PH, Nampoothiri S, McClellan R, Vernon HJ
  Title
Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral  abnormalities.
  Journal
Am J Med Genet A 179:870-874 (2019)
DOI:10.1002/ajmg.a.61118
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