Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.S525A
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CFI

NM_000204.5:p.S525A

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

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

Functional analysis of rare genetic variants in complement factor I in advanced age-related macular degeneration.

Java A et al.

Human Molecular Genetics, 2022

A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negative CFI variants in age-related macular degeneration.

Hallam TM et al.

Frontiers in Immunology, 2022

Regulator-dependent mechanisms of C3b processing by factor I allow differentiation of immune responses.

Xue X et al.

Nature Structural & Molecular Biology, 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."