Article

Whole Exome Sequencing Revealed a Novel Sequence Variant in The OTULIN Underlying Auto-Inflammatory Syndrome

2021-02-15

Abstract excerpt

<title>Abstract</title> <p><bold>Purpose</bold> Systemic auto-inflammatory diseases are a diverse group of heterogeneous disorders resulting in development of the systemic inflammation in absence of the inflammatory induction. Sequence variants in the <italic>OTULIN</italic> gene, which disrupts its ubiquitination activity lead to auto-inflammation, panniculitis, and dermatosis syndrome. To date, only few disease...

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Literature Corpus work: 42e58d1c-fcb5-5347-8fdd-c2cc346ba89f
DOI: 10.21203/rs.3.rs-164929/v1

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