Varaico: Literature-Extracted Genetic Variants

Gene:CFHR3
Variant:p.R142C
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CFHR3

NM_021023.6:p.R142C

Associated Papers

Steroid hormone receptors, exome sequencing and treatment responsiveness of breast cancer patient-derived xenografts originated in a South American country.

Pataccini G et al.

Scientific Reports, 2025

39827242 (PubMed )
Supplement: 41598_2025_86389_MOESM2_ESM.xlsx › Sheet1

Evaluation of the significance of complement-related genes mutations in atypical postinfectious glomerulonephritis: a pilot study.

Xu F et al.

International Urology and Nephrology, 2024

Germline Variant Interpretation in Children with Severe Sepsis.

Prince BT et al.

Journal of Clinical Immunology, 2023

Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Kernan KF et al.

Journal of Clinical Immunology, 2022

Genetic and molecular evidence for complement dysregulation in patients with HELLP syndrome.

Bazzan M et al.

Thrombosis Research, 2020

Genetic analysis of the complement pathway in C3 glomerulopathy.

Zhao W et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2018

A haplotype in CFH family genes confers high risk of rare glomerular nephropathies.

Ding Y et al.

Scientific Reports, 2017

Comprehensive Analysis of Complement Genes in Patients with Atypical Hemolytic Uremic Syndrome.

Zhang T et al.

American Journal of Nephrology, 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."