KEGG   VARIANT: 340419v1
Entry
340419v1                      Variant                              
Name
RSPO2 mutation
Type
Loss of function
Gene
RSPO2  R-spondin 2 [KO:K23097]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610575
Network
nt06505  WNT signaling
Disease
H00636  Tetra-amelia syndrome
Reference
PMID:19619488
  Authors
MacDonald BT, Tamai K, He X
  Title
Wnt/beta-catenin signaling: components, mechanisms, and diseases.
  Journal
Dev Cell 17:9-26 (2009)
DOI:10.1016/j.devcel.2009.06.016
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