Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.L1072I
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NPHS1

NM_004646.4:p.L1072I

Associated Papers

Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.

Schott C et al.

Kidney International Reports, 2025

39990878 (PubMed )
Supplement: mmc1.pdf

Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type.

Nishi K et al.

Clinical and Experimental Nephrology, 2019

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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."