Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.G328R
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CFI

NM_000204.5:p.G328R

Associated Papers

The role of complement factor I rare genetic variants in age related macular degeneration in Finland.

Andreadi A et al.

Human Molecular Genetics, 2025

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

Hallam TM et al.

Immunobiology, 2023

Clinical characterization and identification of rare genetic variants in atypical hemolytic uremic syndrome: A Swedish retrospective observational study.

Åkesson A et al.

Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 2021

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

27939104 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
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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."