Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.G601R
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NPHS1

NM_004646.4:p.G601R

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

Congenital nephrotic syndrome with a novel NPHS1 mutation.

Yoshizawa C et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2016

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

Yang F et al.

Journal of Genetics, 2016

NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome.

Aya K et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009

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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."