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

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 becau...

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Detalles Bibliográficos
Autores principales: Tan, Perciliz L., Garrett, Melanie E., Willer, Jason R., Campochiaro, Peter A., Campochiaro, Betsy, Zack, Donald J., Ashley-Koch, Allison E., Katsanis, Nicholas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6022411/
https://www.ncbi.nlm.nih.gov/pubmed/28282489
http://dx.doi.org/10.1167/iovs.16-20867