Article

Rare and novel <i>RELA</i> variants are common in systemic autoimmunity

2024-11-11

Abstract excerpt

<h4>Objective</h4> Phenotypic diversity of autoimmune diseases presents an ongoing diagnostic and drug development challenge for clinicians and scientists. Recent discovery of mutations in RELA (encoding RELA) in patients with different diagnoses has highlighted that different pathogenic molecular mechanisms are at play and may explain the observed phenotypic diversity. We identified seven novel/rare RELA varia...

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Literature Corpus work: b65be477-b383-5c65-b528-f2735da55de9
DOI: 10.1101/2024.11.11.622574

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