KEGG   VARIANT: 3912v1
Entry
3912v1                      Variant                                
Name
LAMB1 mutation
Type
Loss of function
Gene
LAMB1  laminin subunit beta 1 [KO:K05636]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 150240
Network
nt06548  Integrin signaling
Disease
H00268  Lissencephaly
Reference
PMID:23472759
  Authors
Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG
  Title
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
  Journal
Am J Hum Genet 92:468-74 (2013)
DOI:10.1016/j.ajhg.2013.02.005
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