Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.A739V
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NPHS1

NM_004646.4:p.A739V

Associated Papers

[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

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

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."