KEGG   VARIANT: 93v1
Entry
93v1                      Variant                                  
Name
ACVR2B mutation
Type
Loss of function
Gene
ACVR2B  activin A receptor type 2B [KO:K13596]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602730
Network
nt06507  TGFB signaling
Disease
H00632  Heterotaxy
Reference
  Authors
Kathiriya IS, Srivastava D
  Title
Left-right asymmetry and cardiac looping: implications for cardiac development and congenital heart disease.
  Journal
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