Article
Large-scale DNA sequencing identifies rare variants associated with Systemic Lupus Erythematosus susceptibility in known risk genes.
Gene - 20 May 2024
Latini Andrea, Borgiani Paola, De Benedittis Giada, Ciccacci Cinzia, Novelli Lucia, Pepe Gerardo, Helmer-Citterich Manuela, Baldini Isabella, Perricone Carlo, Ceccarelli Fulvia, Conti Fabrizio, Ianniciello Generoso, Caceres Juan, Ottalevi Riccardo, Capulli Mattia, Novelli Giuseppe
Abstract excerpt
The identification of rare genetic variants associated to Systemic Lupus Erythematosus (SLE) could also help to understand the pathogenic mechanisms at the basis of the disease. In this study we have analyzed a cohort of 200 Italian SLE patients in order to explore the rare protein-coding variants in five genes (TNFAIP3, STAT4, IL10, TRAF3IP2, and HCP5) already investigated for commons variants found associated...
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