Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.H617R
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NPHS1

NM_004646.4:p.H617R

Associated Papers

Next-Generation Sequencing for Congenital Nephrotic Syndrome: A Multi-Center Cross-Sectional Study from India.

Joshi A et al.

Indian Pediatrics, 2021

[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation].

Quiros A et al.

Revue Medicale De Liege, 2020

Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.

Yang F et al.

Journal of Genetics, 2016

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1907.666

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

Beltcheva O et al.

Human Mutation, 2001

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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."