Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.P340H
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NPHS1

NM_004646.4:p.P340H

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

Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome.

Abid A et al.

Frontiers in Genetics, 2018

Nephrin Contributes to Insulin Secretion and Affects Mammalian Target of Rapamycin Signaling Independently of Insulin Receptor.

Villarreal R et al.

Journal of the American Society of Nephrology : Jasn, 2016

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

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

Schoeb DS et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010

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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."