KEGG   VARIANT: 4868v1
Entry
4868v1                      Variant                                
Name
NPHS1 mutation
Type
Loss of function
Gene
NPHS1  NPHS1 adhesion molecule, nephrin [KO:K24496]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602716
Network
nt06546  IgSF CAM signaling
Disease
H01657  Nephrotic syndrome
Reference
PMID:9915943
  Authors
Lenkkeri U, Mannikko M, McCready P, Lamerdin J, Gribouval O, Niaudet PM, Antignac C K, Kashtan CE, Homberg C, Olsen A, Kestila M, Tryggvason K
  Title
Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
  Journal
Am J Hum Genet 64:51-61 (1999)
DOI:10.1086/302182
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