KEGG   VARIANT: 1487v1
Entry
1487v1                      Variant                                
Name
CTBP1 mutation
Gene
CTBP1  C-terminal binding protein 1 [KO:K04496]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602618
Network
nt06523  Epigenetic regulation by Polycomb complexes
Disease
H02619  Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
Reference
PMID:27094857
  Authors
Beck DB, Cho MT, Millan F, Yates C, Hannibal M, O'Connor B, Shinawi M, Connolly AM, Waggoner D, Halbach S, Angle B, Sanders V, Shen Y, Retterer K, Begtrup A, Bai R, Chung WK
  Title
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
  Journal
Neurogenetics 17:173-8 (2016)
DOI:10.1007/s10048-016-0482-4
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