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Article

Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.

Investigative ophthalmology & visual science - 1 Mar 2017

Tan Perciliz L, Garrett Melanie E, Willer Jason R, Campochiaro Peter A, Campochiaro Betsy, Zack Donald J, Ashley-Koch Allison E, Katsanis Nicholas

Abstract excerpt

Purpose: Genome-wide association (GWAS) and sequencing studies for AMD have highlighted the importance of coding variants at loci that encode components of the complement pathway. However, assessing the contribution of such alleles to AMD, especially when they are rare, remains coarse, in part because of the persistent challenge in establishing their functional relevance. Others and we have shown previously that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28282489
DOI: 10.1167/iovs.16-20867
PMCID: PMC6022411

Genes

CFI

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Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.PMID 28282489Read ↗

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

The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.Semantic proximity Read ↗

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Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular DegenerationSemantic proximity Read ↗

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

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