KEGG   VARIANT: 2006v1
Entry
2006v1                      Variant                                
Name
ELN mutation
Type
Loss of function
Gene
ELN  elastin [KO:K14211]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 130160
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00553  Congenital supravalvular aortic stenosis
H00557  Cutis laxa
Reference
PMID:23250899
  Authors
Merla G, Brunetti-Pierri N, Piccolo P, Micale L, Loviglio MN
  Title
Supravalvular aortic stenosis: elastin arteriopathy.
  Journal
Circ Cardiovasc Genet 5:692-6 (2012)
DOI:10.1161/CIRCGENETICS.112.962860
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