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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Autores principales: Antonio Rausell, Pejman Mohammadi, Paul J McLaren, Istvan Bartha, Ioannis Xenarios, Jacques Fellay, Amalio Telenti
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2014
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Acceso en línea:https://doaj.org/article/7d73418f899b4c33a120716f496a84b9
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