KEGG   VARIANT: 2201v1
Entry
2201v1                      Variant                                
Name
FBN2 mutation
Gene
FBN2  fibrillin 2 [KO:K23342]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612570
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00811  Distal arthrogryposis
Reference
PMID:7493032
  Authors
Putnam EA, Zhang H, Ramirez F, Milewicz DM
  Title
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
  Journal
Nat Genet 11:456-8 (1995)
DOI:10.1038/ng1295-456
LinkDB

DBGET integrated database retrieval system