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

bioRxiv

Mar 17, 2014

Antonio RausellAmalio Telenti

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Abstract

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-i...read more

Mentioned in this Paper

Gene Expression
Immunologic Deficiency Syndromes
Online Mendelian Inheritance In Man
Interferon
Interferons
Genome
Frameshift Mutation Function
Protein Truncation Abnormality
Positive Selection
Complement System Proteins
5
2
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Analysis of stop-gain and frameshift variants in human innate immunity genes

bioRxiv

Mar 17, 2014

Antonio RausellAmalio Telenti

DOI: 10.1101/003376

Abstract

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-i...read more

Mentioned in this Paper

Gene Expression
Immunologic Deficiency Syndromes
Online Mendelian Inheritance In Man
Interferon
Interferons
5
2

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