KEGG   VARIANT: 4088v1
Entry
4088v1                      Variant                                
Name
SMAD3 mutation
Type
Loss of function
Gene
SMAD3  SMAD family member 3 [KO:K23605]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603109
Network
nt06507  TGFB signaling
Disease
H00800  Loeys-Dietz syndrome
Reference
PMID:30037098
  Authors
Takeda N, Hara H, Fujiwara T, Kanaya T, Maemura S, Komuro I
  Title
TGF-beta Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections.
  Journal
Int J Mol Sci 19:E2125 (2018)
DOI:10.3390/ijms19072125
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