KEGG   VARIANT: 4093v1
Entry
4093v1                      Variant                                
Name
SMAD9 mutation
Type
Loss of function
Gene
SMAD9  SMAD family member 9 [KO:K16791]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603295
Network
nt06507  TGFB signaling
Disease
H01619  Primary pulmonary hypertension
Reference
PMID:31406341
  Authors
Southgate L, Machado RD, Graf S, Morrell NW
  Title
Molecular genetic framework underlying pulmonary arterial hypertension.
  Journal
Nat Rev Cardiol 17:85-95 (2020)
DOI:10.1038/s41569-019-0242-x
Reference
PMID:30545973
  Authors
Morrell NW, Aldred MA, Chung WK, Elliott CG, Nichols WC, Soubrier F, Trembath RC, Loyd JE
  Title
Genetics and genomics of pulmonary arterial hypertension.
  Journal
Eur Respir J 53:1801899 (2019)
DOI:10.1183/13993003.01899-2018
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