KEGG   VARIANT: 1290v1
Entry
1290v1                      Variant                                
Name
COL5A2 mutation
Gene
COL5A2  collagen type V alpha 2 chain [KO:K19721]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120190
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00802  Ehlers-Danlos syndrome
Reference
PMID:22696272
  Authors
Symoens S, Syx D, Malfait F, Callewaert B, De Backer J, Vanakker O, Coucke P, De Paepe A
  Title
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.
  Journal
Hum Mutat 33:1485-93 (2012)
DOI:10.1002/humu.22137
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