KEGG   VARIANT: 658v1
Entry
658v1                      Variant                                 
Name
BMPR1B mutation
Type
Loss of function
Gene
BMPR1B  bone morphogenetic protein receptor type 1B [KO:K13578]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603248
Network
nt06507  TGFB signaling
Disease
H00482  Brachydactyly
H02543  Acromesomelic dysplasia
Reference
PMID:32522605
  Authors
Sanchez-Duffhues G, Williams E, Goumans MJ, Heldin CH, Ten Dijke P
  Title
Bone morphogenetic protein receptors: Structure, function and targeting by selective small molecule kinase inhibitors.
  Journal
Bone 138:115472 (2020)
DOI:10.1016/j.bone.2020.115472
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