Varaico: Literature-Extracted Genetic Variants

Gene:OTULIN
Variant:p.A240V
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OTULIN

NM_138348.6:p.A240V

Associated Papers

Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency.

van der Linden TJ et al.

Journal of Human Immunity, 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 Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition.

Arts RJW et al.

Journal of Clinical Immunology, 2023

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