Article

OTULIN-related conditions: Report of a new case and review of the literature using GenIA

2024-03-08

Abstract excerpt

<title>Abstract</title> <p> <italic>OTULIN</italic> encodes an eponymous linear deubiquitinase (DUB), which through the regulation of M1-Ub dynamics, is essential for controlling inflammation as a negative regulator of the canonical NF-𝛋B signaling pathway. Biallelic loss-of-function (LOF) mutations in <italic>OTULIN</italic> cause an autosomal recessive condition named Otulin-Related Autoinflammatory Syndro...

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Literature Corpus work: 38f8d7df-96d7-511e-b154-f1c3d9d823f0
DOI: 10.21203/rs.3.rs-3950863/v2

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