KEGG   VARIANT: 4882v2
Entry
4882v2                      Variant                                
Name
NPR2 gain-of-function mutation
Type
Gain of function
Gene
NPR2  natriuretic peptide receptor 2 [KO:K12324]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 108961
Network
nt06325  Hormone/cytokine signaling
Disease
H02679  Miura-type epiphyseal chondrodysplasia
Reference
PMID:22870295
  Authors
Miura K, Namba N, Fujiwara M, Ohata Y, Ishida H, Kitaoka T, Kubota T, Hirai H, Higuchi C, Tsumaki N, Yoshikawa H, Sakai N, Michigami T, Ozono K
  Title
An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.
  Journal
PLoS One 7:e42180 (2012)
DOI:10.1371/journal.pone.0042180
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