Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.R367H
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NPHS1

NM_004646.4:p.R367H

Associated Papers

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

[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

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."