Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.R474Q
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CFI

NM_000204.5:p.R474Q

Associated Papers

Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort.

Hallam TM et al.

The Journal of Biological Chemistry, 2024

Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.

Hallam TM et al.

Immunobiology, 2023

Assessing the Impact of Prophylactic Eculizumab on Renal Graft Survival in Atypical Hemolytic Uremic Syndrome.

Glover EK et al.

Transplantation, 2023

36413152 (PubMed )
Supplement: tp-107-994-s001.xlsx › 1._Not_treated_with_Eculizumab

Complement Factor I Variants in Complement-Mediated Renal Diseases.

Zhang Y et al.

Frontiers in Immunology, 2022

Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.

de Jong S et al.

Frontiers in Immunology, 2021

Effect of rare coding variants in the CFI gene on Factor I expression levels.

de Jong S et al.

Human Molecular Genetics, 2020

Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.

Geerlings MJ et al.

Clinical Genetics, 2018

29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S4.xlsx › CFI

The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.

Geerlings MJ et al.

Molecular Immunology, 2017

Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.

Szarvas N et al.

Molecular Immunology, 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."