KEGG   VARIANT: 9368v1
Entry
9368v1                      Variant                                
Name
NHERF1 mutation
Type
Loss of function
Gene
NHERF1  NHERF family PDZ scaffold protein 1 [KO:K13365]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604990
Network
nt06325  Hormone/cytokine signaling
Disease
H00888  Nephrolithiasis/osteoporosis, hypophosphatemic
Reference
PMID:18784102
  Authors
Karim Z, Gerard B, Bakouh N, Alili R, Leroy C, Beck L, Silve C, Planelles G, Urena-Torres P, Grandchamp B, Friedlander G, Prie D
  Title
NHERF1 mutations and responsiveness of renal parathyroid hormone.
  Journal
N Engl J Med 359:1128-35 (2008)
DOI:10.1056/NEJMoa0802836
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