Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.L131R
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CFI

NM_000204.5:p.L131R

Associated Papers

Disease Progression in Age-Related Macular Degeneration Patients Carrying Rare Variants in the Complement Factor H or Complement Factor I Genes.

Cinque F et al.

Investigative Ophthalmology & Visual Science, 2025

41222198 (PubMed )
Supplement: iovs-66-14-23_s001.pdf

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

Hallam TM et al.

Immunobiology, 2023

Early Eculizumab Withdrawal in Patients With Atypical Hemolytic Uremic Syndrome in Native Kidneys Is Safe and Cost-Effective: Results of the CUREiHUS Study.

Bouwmeester RN et al.

Kidney International Reports, 2023

36644349 (PubMed )
Supplement: mmc1.pdf

Molecular Genetic Mechanisms in Age-Related Macular Degeneration.

Shughoury A et al.

Genes, 2022

Genetic Risk in Families with Age-Related Macular Degeneration.

de Breuk A et al.

Ophthalmology Science, 2021

Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.

Acar IE et al.

Journal of Personalized Medicine, 2021

Functional and Genetic Landscape of Complement Dysregulation Along the Spectrum of Thrombotic Microangiopathy and its Potential Implications on Clinical Outcomes.

Timmermans SAMEG et al.

Kidney International Reports, 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

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

The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration.

Geerlings MJ et al.

Jama Ophthalmology, 2017

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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."