KEGG   VARIANT: 7046v2
Entry
7046v2                      Variant                                
Name
TGFBR1 mutation
Type
Loss of function
Gene
TGFBR1  transforming growth factor beta receptor 1 [KO:K04674]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 190181
Network
nt06507  TGFB signaling
Disease
H00800  Loeys-Dietz syndrome
H00801  Familial thoracic aortic aneurysm and dissection
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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