Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.I446N
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NPHS1

NM_004646.4:p.I446N

Associated Papers

Congenital and infantile nephrotic syndrome: genotype-phenotype associations.

Islam MS et al.

Pediatric Research, 2025

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.

Watanabe A et al.

Kidney International Reports, 2024

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

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

NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.

Guaragna MS et al.

Nephrology (carlton, Vic.), 2016

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

Yang F et al.

Journal of Genetics, 2016

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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."