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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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מידע ביבליוגרפי
Main Authors: Rausell, Antonio, Mohammadi, Pejman, McLaren, Paul J., Bartha, Istvan, Xenarios, Ioannis, Fellay, Jacques, Telenti, Amalio
פורמט: Artigo
שפה:Inglês
יצא לאור: Public Library of Science 2014
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC4110073/
https://ncbi.nlm.nih.gov/pubmed/25058640
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pcbi.1003757
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