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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Auteurs principaux: | Antonio Rausell, Pejman Mohammadi, Paul J McLaren, Istvan Bartha, Ioannis Xenarios, Jacques Fellay, Amalio Telenti |
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Format: | article |
Langue: | EN |
Publié: |
Public Library of Science (PLoS)
2014
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Accès en ligne: | https://doaj.org/article/7d73418f899b4c33a120716f496a84b9 |
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