Analysis of Stop-Gain and Frameshift Variants in Human Innate Immunity Genes

Loss-of-function variants in innate immunity genes are associated with Mendelian disorders in the form of primary immunodeficiencies. Recent resequencing projects report that stop-gains and frameshifts are collectively prevalent in humans and could be responsible for some of the inter-individual var...

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Bibliographic Details
Main Authors: Rausell, Antonio, Mohammadi, Pejman, McLaren, Paul J., Bartha, Istvan, Xenarios, Ioannis, Fellay, Jacques, Telenti, Amalio
Format: Online
Language:English
Published: Public Library of Science 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110073/