Varaico: Literature-Extracted Genetic Variants

Gene:OTULIN
Variant:p.R263Q
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OTULIN

NM_138348.6:p.R263Q

Associated Papers

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

van der Linden TJ et al.

Journal of Human Immunity, 2025

Failure to Close: An Unexpected Surgical Complication Reveals OTULIN Haploinsufficiency.

Nguyen J et al.

Acr Open Rheumatology, 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

Dominant negative OTULIN-related autoinflammatory syndrome.

Davidson S et al.

The Journal of Experimental Medicine, 2024

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

Caballero-Oteyza A et al.

Research Square, 2024

Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.

Spaan AN et al.

Science (new York, N.y.), 2022

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