KEGG   VARIANT: 94v1
Entry
94v1                      Variant                                  
Name
ACVRL1 mutation
Type
Loss of function
Gene
ACVRL1  activin A receptor like type 1 [KO:K13594]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601284
Network
nt06507  TGFB signaling
Disease
H00533  Hereditary hemorrhagic telangiectasia
Reference
PMID:33167572
  Authors
Bernabeu C, Bayrak-Toydemir P, McDonald J, Letarte M
  Title
Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia.
  Journal
J Clin Med 9:E3571 (2020)
DOI:10.3390/jcm9113571
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