Varaico: Literature-Extracted Genetic Variants

Gene:NPHP4
Variant:p.E1013K
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NPHP4

NM_015102.5:p.E1013K

Associated Papers

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.

König JC et al.

Kidney International Reports, 2022

36090483 (PubMed )
Supplement: mmc1.pdf

Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis.

Mistry K et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."