KEGG   VARIANT: 2192v1
Entry
2192v1                      Variant                                
Name
FBLN1 mutation
Gene
FBLN1  fibulin 1 [KO:K17307]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 135820
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00459  Synpolydactyly
Reference
PMID:11836357
  Authors
Debeer P, Schoenmakers EF, Twal WO, Argraves WS, De Smet L, Fryns JP, Van De Ven WJ
  Title
The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly.
  Journal
J Med Genet 39:98-104 (2002)
DOI:10.1136/jmg.39.2.98
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