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Article

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

Human molecular genetics - 28 Oct 2022

Java Anuja, Pozzi Nicola, Schroeder Molly C, Hu Zheng, Huan Tianxiao, Seddon Johanna M, Atkinson John

Abstract excerpt

Factor I (FI) is a serine protease inhibitor of the complement system. Heterozygous rare genetic variants in complement factor I (CFI) are associated with advanced age-related macular degeneration (AMD). The clinical impact of these variants is unknown since a majority have not been functionally characterized and are classified as 'variants of uncertain significance' (VUS). This study assessed the functional...

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PMID: 35531992
DOI: 10.1093/hmg/ddac103
PMCID: PMC9616575

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