Varaico: Literature-Extracted Genetic Variants

Gene:NPHP3
Variant:p.K319_D320Splc
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NPHP3

NM_153240.5:p.K319_D320Splc

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

NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings.

Leeman KT et al.

Journal of Perinatology : Official Journal of the California Perinatal Association, 2014

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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."