Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.N199fs
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NPHS2

NM_014625.4:p.N199fs

Associated Papers

Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation.

Gcobo T et al.

Genes, 2025

Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life.

Elshafey SA et al.

Acta Paediatrica (oslo, Norway : 1992), 2023

NPHS2 Mutations: A Closer Look to Latin American Countries.

Guaragna MS et al.

Biomed Research International, 2017

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

Sadowski CE et al.

Journal of the American Society of Nephrology : Jasn, 2015

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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."