 | | VARIANT: 7827v1 | |
| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
NPHS2 NPHS2 stomatin family member, podocin [KO: K18268]
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
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| Disease |
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| Reference |
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| Authors |
Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C |
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| Title |
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. |
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| Journal |
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| Reference |
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| Authors |
Tsukaguchi H, Sudhakar A, Le TC, Nguyen T, Yao J, Schwimmer JA, Schachter AD, Poch E, Abreu PF, Appel GB, Pereira AB, Kalluri R, Pollak MR |
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| Title |
NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. |
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| Journal |
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| LinkDB |
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