Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.Q219*
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NPHS2

NM_014625.4:p.Q219*

Associated Papers

Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease.

Amr KS et al.

Molecular Biology Reports, 2025

Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.

Kachmar J et al.

Kidney International Reports, 2024

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

Bouchireb K et al.

Human Mutation, 2014

Genetic screening in children with challenging nephrotic syndrome.

Saeed B

Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 0

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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."