Varaico: Literature-Extracted Genetic Variants

Gene:OAS1
Variant:p.L198V
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OAS1

NM_016816.4:p.L198V

Associated Papers

OAS-1-associated polymorphic autoinflammatory disorder with distinct cutaneous manifestations and multisystem inflammation: Further expanding the spectrum with a phenotype resembling Behcet's disease.

Baskaran N et al.

Indian Journal of Dermatology, Venereology and Leprology, 2025

Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.

Magg T et al.

Science Immunology, 2021

Inborn errors of immunity-recent advances in research on the pathogenesis.

Yamashita M et al.

Inflammation and Regeneration, 2021

Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia.

Cho K et al.

American Journal of Human Genetics, 2018

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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."