KEGG   VARIANT: 10319v1
Entry
10319v1                      Variant                               
Name
LAMC3 mutation
Type
Loss of function
Gene
LAMC3  laminin subunit gamma 3 [KO:K06247]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604349
Network
nt06548  Integrin signaling
Disease
H02501  Occipital cortical malformation
Reference
  Authors
Barak T, Kwan KY, Louvi A, Demirbilek V, Saygi S, Tuysuz B, Choi M, Boyaci H, Doerschner K, Zhu Y, Kaymakcalan H, Yilmaz S, Bakircioglu M, Caglayan AO, Ozturk AK, Yasuno K, Brunken WJ, Atalar E, Yalcinkaya C, Dincer A, Bronen RA, Mane S, Ozcelik T, Lifton RP, Sestan N, Bilguvar K, Gunel M
  Title
Recessive LAMC3 mutations cause malformations of occipital cortical development.
  Journal
Nat Genet 43:590-4 (2011)
DOI:10.1038/ng.836
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