Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.S187L
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AIRE

NM_000383.4:p.S187L

Associated Papers

Phenotypic spectrum in a family with a novel RAC2 p.I21S dominant-activating mutation.

Ashby L et al.

Clinical & Translational Immunology, 2024

Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome.

Xie VX et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2023

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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."