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Article

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

PLoS computational biology - 1 Jul 2014

Rausell Antonio, Mohammadi Pejman, McLaren Paul J, Bartha Istvan, Xenarios Ioannis, Fellay Jacques, Telenti Amalio

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...

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Identifiers

PMID: 25058640
DOI: 10.1371/journal.pcbi.1003757
PMCID: PMC4110073

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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