Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.W51C
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CFI

NM_000204.5:p.W51C

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

Functional evaluation of rare variants in complement factor I using a minigene assay.

Donelson CJH et al.

Frontiers in Immunology, 2024

39238643 (PubMed )
Supplement: Datasheet1.pdf

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

Hallam TM et al.

Immunobiology, 2023

Complement Factor I Variants in Complement-Mediated Renal Diseases.

Zhang Y et al.

Frontiers in Immunology, 2022

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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."