KEGG   VARIANT: 142680v1
Entry
142680v1                      Variant                              
Name
SLC34A3 mutation
Gene
SLC34A3  solute carrier family 34 member 3 [KO:K14683]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609826
Network
nt06325  Hormone/cytokine signaling
Disease
H00214  Hypophosphatemic rickets
Reference
PMID:16358215
  Authors
Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM
  Title
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
  Journal
Am J Hum Genet 78:193-201 (2006)
DOI:10.1086/499410
LinkDB

DBGET integrated database retrieval system