KEGG   VARIANT: 1281v1
Entry
1281v1                      Variant                                
Name
COL3A1 mutation
Type
Loss of function
Gene
COL3A1  collagen type III alpha 1 chain [KO:K19720]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120180
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00271  Polymicrogyria
H02242  Ehlers-Danlos syndrome vascular type
Reference
PMID:34849481
  Authors
Omar R, Malfait F, Van Agtmael T
  Title
Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome.
  Journal
Matrix Biol Plus 12:100090 (2021)
DOI:10.1016/j.mbplus.2021.100090
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