Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.M1L
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NPHS2

NM_014625.4:p.M1L

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

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

Gcobo T et al.

Genes, 2025

Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.

Soliman NA et al.

Human Genetics, 2025

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.

Schneider R et al.

Genes & Diseases, 2025

39584075 (PubMed )
Supplement: mmc2.pdf

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

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._

Genetic mutation in Egyptian children with steroid-resistant nephrotic syndrome.

Thomas MM et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2018

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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."