KEGG   VARIANT: 83706v1
Entry
83706v1                      Variant                               
Name
FERMT3 mutation
Type
Loss of function
Gene
FERMT3  FERM domain containing kindlin 3 [KO:K17084]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607901
Network
nt06548  Integrin signaling
Disease
H00099  Leukocyte adhesion deficiency
Reference
PMID:19234463
  Authors
Svensson L, Howarth K, McDowall A, Patzak I, Evans R, Ussar S, Moser M, Metin A, Fried M, Tomlinson I, Hogg N
  Title
Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation.
  Journal
Nat Med 15:306-12 (2009)
DOI:10.1038/nm.1931
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