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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Detalles Bibliográficos
Autores principales: Rausell, Antonio, Mohammadi, Pejman, McLaren, Paul J., Bartha, Istvan, Xenarios, Ioannis, Fellay, Jacques, Telenti, Amalio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110073/
https://www.ncbi.nlm.nih.gov/pubmed/25058640
http://dx.doi.org/10.1371/journal.pcbi.1003757

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110073/
https://www.ncbi.nlm.nih.gov/pubmed/25058640
http://dx.doi.org/10.1371/journal.pcbi.1003757

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