Varaico: Literature-Extracted Genetic Variants

Gene:CFHR5
Variant:p.N178S
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CFHR5

NM_030787.4:p.N178S

Associated Papers

The human factor H protein family - an update.

Sándor N et al.

Frontiers in Immunology, 2024

38410512 (PubMed )
Supplement: DataSheet_1.pdf

New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.

Chen Y et al.

Molecular Genetics & Genomic Medicine, 2023

37248651 (PubMed )
Supplement: MGG3-11-e2163-s001.xls › Table_S1

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Li Y et al.

Frontiers in Oncology, 2022

36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1

C3 glomerulonephritis and systemic lupus erythematosus: A report of a patient treated with eculizumab and review of the literature.

Fernandez-Ruiz R et al.

Lupus, 2021

[Genetic variants of familial hematuria associated genes in three families with hematuria with probands initially diagnosed as IgA nephropathy].

Liu JW et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019

Rare Variants in the Complement Factor H-Related Protein 5 Gene Contribute to Genetic Susceptibility to IgA Nephropathy.

Zhai YL et al.

Journal of the American Society of Nephrology : Jasn, 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."