Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.C124R
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NPHS2

NM_014625.4:p.C124R

Associated Papers

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

A multicenter study investigating the genetic analysis of childhood steroid-resistant nephrotic syndrome: Variants in COL4A5 may not be coincidental.

Li S et al.

Plos One, 2024

The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study.

Zhu X et al.

Frontiers in Medicine, 2022

Analysis of the clinical characteristics of arthritis with renal disease caused by a NPHS2 gene mutation.

Shi D et al.

Clinical Rheumatology, 2021

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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."