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Article

Two common disease-associated TYK2 variants impact exon splicing and TYK2 dosage.

PloS one - 1 Jan 2020

Li Zhi, Rotival Maxime, Patin Etienne, Michel Frédérique, Pellegrini Sandra

Abstract excerpt

TYK2 belongs to the JAK protein tyrosine kinase family and mediates signaling of numerous antiviral and immunoregulatory cytokines (type I and type III IFNs, IL-10, IL-12, IL-22, IL-23) in immune and non-immune cells. After many years of genetic association studies, TYK2 is recognized as a susceptibility gene for some inflammatory and autoimmune diseases (AID). Seven TYK2 variants have been associated with AIDs...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31961910
DOI: 10.1371/journal.pone.0225289
PMCID: PMC6974145

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