Varaico: Literature-Extracted Genetic Variants

Gene:CD8A
Variant:p.G111S
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CD8A

NM_001768.7:p.G111S

Associated Papers

Naturally Occurring Genetic Alterations in Proximal TCR Signaling and Implications for Cancer Immunotherapy.

Kent A et al.

Frontiers in Immunology, 2021

Recurrent Respiratory Infections Revealing CD8α Deficiency.

Dumontet E et al.

Journal of Clinical Immunology, 2015

Phenotypic and functional evaluation of CD3+CD4-CD8- T cells in human CD8 immunodeficiency.

Bernardo I et al.

Haematologica, 2011

Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene.

Quental S et al.

Annals of Human Genetics, 2009

Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies.

Mancebo E et al.

Molecular Immunology, 2008

Gain-of-glycosylation mutations.

Vogt G et al.

Current Opinion in Genetics & Development, 2007

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.

Vogt G et al.

Nature Genetics, 2005

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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."