KEGG   VARIANT: 1284v1
Entry
1284v1                      Variant                                
Name
COL4A2 mutation
Gene
COL4A2  collagen type IV alpha 2 chain [KO:K06237]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120090
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00877  Brain small vessel disease
Reference
PMID:22333902
  Authors
Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM
  Title
COL4A2 mutation associated with familial porencephaly and small-vessel disease.
  Journal
Eur J Hum Genet 20:844-51 (2012)
DOI:10.1038/ejhg.2012.20
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