KEGG   VARIANT: 650v1
Entry
650v1                      Variant                                 
Name
BMP2 mutation
Type
Loss of function
Gene
BMP2  bone morphogenetic protein 2 [KO:K21283]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 112261
Network
nt06507  TGFB signaling
Disease
H00482  Brachydactyly
Reference
PMID:30246251
  Authors
Gomez-Puerto MC, Iyengar PV, Garcia de Vinuesa A, Ten Dijke P, Sanchez-Duffhues G
  Title
Bone morphogenetic protein receptor signal transduction in human disease.
  Journal
J Pathol 247:9-20 (2019)
DOI:10.1002/path.5170
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