KEGG   VARIANT: 657v1
Entry
657v1                      Variant                                 
Name
BMPR1A mutation
Type
Loss of function
Gene
BMPR1A  bone morphogenetic protein receptor type 1A [KO:K04673]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601299
Network
nt06507  TGFB signaling
Disease
H01023  Juvenile polyposis syndrome
H01024  Hereditary mixed polyposis syndrome
Reference
PMID:25097590
  Authors
Cichy W, Klincewicz B, Plawski A
  Title
Juvenile polyposis syndrome.
  Journal
Arch Med Sci 10:570-7 (2014)
DOI:10.5114/aoms.2014.43750
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