KEGG   VARIANT: 7040v1
Entry
7040v1                      Variant                                
Name
TGFB1 mutation
Type
Loss of function
Gene
TGFB1  transforming growth factor beta-1 proprotein preproprotein [KO:K13375]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 190180
Network
nt06507  TGFB signaling
nt06535  Efferocytosis
Disease
H00218  Cystic fibrosis
H00434  Camurati-Engelmann disease
H02669  Inflammatory bowel disease, immunodeficiency, and encephalopathy
Reference
PMID:17008304
  Authors
Harradine KA, Akhurst RJ
  Title
Mutations of TGFbeta signaling molecules in human disease.
  Journal
Ann Med 38:403-14 (2006)
DOI:10.1080/07853890600919911
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