KEGG   VARIANT: 1947v1
Entry
1947v1                      Variant                                
Name
EFNB1 mutation
Type
Loss of function
Gene
EFNB1  ephrin B1 [KO:K05463]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300035
Network
nt06541  Cytoskeleton in neurons
Disease
H00458  Syndromic craniosynostoses
Reference
  Authors
Twigg SR, Matsumoto K, Kidd AM, Goriely A, Taylor IB, Fisher RB, Hoogeboom AJ, Mathijssen IM, Lourenco MT, Morton JE, Sweeney E, Wilson LC, Brunner HG, Mulliken JB, Wall SA, Wilkie AO
  Title
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
  Journal
Am J Hum Genet 78:999-1010 (2006)
DOI:10.1086/504440
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