Varaico: Literature-Extracted Genetic Variants

Gene:CD48
Variant:p.S220Y
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CD48

NM_001778.4:p.S220Y

Associated Papers

The hyperinflammatory spectrum: from defects in cytotoxicity to cytokine control.

Planas R et al.

Frontiers in Immunology, 2023

Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2021

Recurrent inflammatory disease caused by a heterozygous mutation in CD48.

Volkmer B et al.

The Journal of Allergy and Clinical Immunology, 2019

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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."