Varaico: Literature-Extracted Genetic Variants

Gene:OTULIN
Variant:p.Q288_V289Splc
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OTULIN

NM_138348.6:p.Q288_V289Splc

Associated Papers

Expanding the phenotypic and genetic spectrum of ORAS with novel homozygous variant in OTULIN gene: a case series and literature review.

AlSaleem A et al.

Pediatric Rheumatology Online Journal, 2025

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

Caballero-Oteyza A et al.

Clinical Immunology (orlando, Fla.), 2024

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

Caballero-Oteyza A et al.

Research Square, 2024

OTULIN deficiency: focus on innate immune system impairment.

Dou B et al.

Frontiers in Immunology, 2024

Met1-linked ubiquitin signalling in health and disease: inflammation, immunity, cancer, and beyond.

Jahan AS et al.

Cell Death and Differentiation, 2021

Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation.

Nabavi M et al.

Journal of Clinical Immunology, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."