KEGG   VARIANT: 80144v1
Entry
80144v1                      Variant                               
Name
FRAS1 mutation
Type
Loss of function
Gene
FRAS1  Fraser extracellular matrix complex subunit 1 [KO:K23379]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607830
Network
nt06548  Integrin signaling
Disease
H00687  Fraser syndrome
Reference
  Authors
McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ
  Title
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.
  Journal
Nat Genet 34:203-8 (2003)
DOI:10.1038/ng1142
Reference
  Authors
Cavalcanti DP, Matejas V, Luquetti D, Mello MF, Zenker M
  Title
Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.
  Journal
Am J Med Genet A 143A:241-7 (2007)
DOI:10.1002/ajmg.a.31426
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