Article

Analysis of stop-gain and frameshift variants in human innate immunity genes

2014-03-17

Abstract excerpt

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 variability in innate immune response. Current computational approaches evaluating loss-of-function in genes carrying th...

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Literature Corpus work: 1ca7d0a6-087b-5b49-ab9d-1382242f0899
DOI: 10.1101/003376

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