KEGG   VARIANT: 2022v1
Entry
2022v1                      Variant                                
Name
ENG mutation
Type
Loss of function
Gene
ENG  endoglin [KO:K06526]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 131195
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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