Activity
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| Tubulointerstitial kidney disease v0.3 | NPHP4 | Eleanor Williams reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: ; Publications: Mollet et al 2002 PMID: 12244321, Otto et al 2002 PMID: 12205563; Phenotypes: Nephronopthisis 4 MIM 606966, Senior-Loken syndrome 4 MIM 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.2 | NPHP4 |
Eleanor Williams gene: NPHP4 was added gene: NPHP4 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHP4 were set to 12244321; 12205563 Phenotypes for gene: NPHP4 were set to Senior-Loken syndrome 4 MIM 606996; Nephronopthisis 4 MIM 606966 |
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