Article

Ultra-Rare Genetic Variation in Relapsing Polychondritis: A Whole-Exome Sequencing Study

2023-04-17

Abstract excerpt

<h4>Objective</h4> Relapsing polychondritis (RP) is a systemic inflammatory disease of unknown etiology. The study objective was to examine the contribution of rare genetic variations in RP. <h4>Methods</h4> We performed a case-control exome-wide rare variant association analysis including 66 unrelated European American RP cases and 2923 healthy controls. Gene-level collapsing analysis was performed using Firth’s...

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Literature Corpus work: 2d513fc5-26f7-5a9b-9da4-3b0f249f022f
DOI: 10.1101/2023.04.10.23288250

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