KEGG   VARIANT: 90v1
Entry
90v1                      Variant                                  
Name
ACVR1 mutation
Type
Loss of function
Gene
ACVR1  activin A receptor type 1 [KO:K04675]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 102576
Network
nt06507  TGFB signaling
Disease
H00430  Fibrodysplasia ossificans progressiva
Reference
PMID:33410098
  Authors
Hildebrandt S, Kampfrath B, Fischer K, Hildebrand L, Haupt J, Stachelscheid H, Knaus P
  Title
ActivinA Induced SMAD1/5 Signaling in an iPSC Derived EC Model of Fibrodysplasia Ossificans Progressiva (FOP) Can Be Rescued by the Drug Candidate Saracatinib.
  Journal
Stem Cell Rev Rep 17:1039-1052 (2021)
DOI:10.1007/s12015-020-10103-9
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