KEGG   VARIANT: 392255v1
Entry
392255v1                      Variant                              
Name
GDF6 mutation
Type
Loss of function
Gene
GDF6  growth differentiation factor 6 [KO:K20012]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601147
Network
nt06507  TGFB signaling
Disease
H00484  Multiple synostosis syndrome
Reference
  Authors
Wang J, Yu T, Wang Z, Ohte S, Yao RE, Zheng Z, Geng J, Cai H, Ge Y, Li Y, Xu Y, Zhang Q, Gusella JF, Fu Q, Pregizer S, Rosen V, Shen Y
  Title
A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.
  Journal
J Bone Miner Res 31:882-9 (2016)
DOI:10.1002/jbmr.2761
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