Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.Y89*
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CTLA4

NM_005214.5:p.Y89*

Associated Papers

A Nationwide Study of the Delayed Diagnosis and the Clinical Manifestations of Predominantly Antibody Deficiencies and CTLA4-Mediated Immune Dysregulation Syndrome in Greece.

Kapousouzi A et al.

Medicina (kaunas, Lithuania), 2024

An Activating Janus Kinase-3 Mutation Is Associated with Cytotoxic T Lymphocyte Antigen-4-Dependent Immune Dysregulation Syndrome.

Sic H et al.

Frontiers in Immunology, 2017

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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."