Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.R71*
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NPHS2

NM_014625.4:p.R71*

Associated Papers

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

35755072 (PubMed )
Supplement: Data_Sheet_1.PDF

TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.

da Silva EM et al.

Npj Breast Cancer, 2021

33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.pdf

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Xi Y et al.

Molecular Genetics & Genomic Medicine, 2020

32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf

Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome.

Siji A et al.

Bmc Medical Genetics, 2018

Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.

Wang F et al.

Pediatric Nephrology (berlin, Germany), 2017

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

Bouchireb K et al.

Human Mutation, 2014

NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome.

Vasudevan A et al.

Indian Pediatrics, 2012

[Genetic variations of NPHS2 and WT1 genes in 15 Chinese children with sporadic steroid-resistant nephrotic syndrome].

Wang JJ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009

A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome.

Sun H et al.

Pathology, 2009

Role of Genetic Screening in the Management of Familial Focal Segmental Glomerulosclerosis: A Tale of Two Sisters.

Siji A et al.

Indian Journal of Nephrology, 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."