KEGG   VARIANT: 5048v1
Entry
5048v1                      Variant                                
Name
PAFAH1B1 mutation
Type
Loss of function
Gene
PAFAH1B1  platelet activating factor acetylhydrolase 1b regulatory subunit 1 [KO:K16794]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601545
Network
nt06515  Regulation of kinetochore-microtubule interactions
nt06541  Cytoskeleton in neurons
Disease
H00268  Lissencephaly
Reference
PMID:9063735
  Authors
Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH
  Title
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
  Journal
Hum Mol Genet 6:157-64 (1997)
DOI:10.1093/hmg/6.2.157
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