KEGG   VARIANT: 55243v1
Entry
55243v1                      Variant                               
Name
NEPH1 mutation
Type
Loss of function
Gene
KIRREL1  kirre like nephrin family adhesion molecule 1 [KO:K25874]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607428
Network
nt06546  IgSF CAM signaling
Disease
H01657  Nephrotic syndrome
Reference
  Authors
Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P, Kwon SH, Hugo H, Nakayama M, Mann N, Majmundar AJ, Tan W, Gee HY, Sadowski CE, Rinat C, Becker-Cohen R, Bergmann C, Rosen S, Somers M, Shril S, Huber TB, Mane S, Hildebrandt F, Nihalani D
  Title
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
  Journal
Kidney Int 96:883-889 (2019)
DOI:10.1016/j.kint.2019.06.016
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