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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2014
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| Materias: | |
| 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 |