Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.K480_D481Splc
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NPHS1

NM_004646.4:p.K480_D481Splc

Associated Papers

A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report.

Xie D et al.

Medicine, 2023

Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study.

Rong L et al.

Frontiers in Medicine, 2021

[Prenatal diagnosis of a fetus affected with Finnish type congenital nephrotic syndrome].

Chu Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome.

Nguyen TK et al.

Case Reports in Genetics, 2017

Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome.

Fu R et al.

Genetics and Molecular Research : Gmr, 2015

CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.

Slavotinek A et al.

American Journal of Human Genetics, 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."