Article

A novel nonsense variant in <i>SUPT20H</i> gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families

2018-09-28

Abstract excerpt

The triggering and development of Rheumatoid Arthritis (RA) is conditioned by environmental and genetic factors. Despite the identification of more than one hundred genetic variants associated with the disease, not all the cases can be explained. Here, we performed Whole Exome Sequencing in 9 multiplex families (N=30) to identify rare variants susceptible to play a role in the disease pathogenesis. We pre-selected...

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Literature Corpus work: 34f2318f-a032-5293-9fb6-4a82dd776130
DOI: 10.1101/430223

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