Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.Q12*
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CTLA4

NM_005214.5:p.Q12*

Associated Papers

Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.

Hoshino A et al.

Frontiers in Immunology, 2021

35087518 (PubMed )
Supplement: DataSheet_1.docx

What did we learn from CTLA-4 insufficiency on the human immune system?

Mitsuiki N et al.

Immunological Reviews, 2019

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.

Schwab C et al.

The Journal of Allergy and Clinical Immunology, 2018

High frequencies of asymptomatic Epstein-Barr virus viremia in affected and unaffected individuals with CTLA4 mutations.

Hoshino A et al.

Clinical Immunology (orlando, Fla.), 2018

Polymorphisms within the PHF11 gene at chromosome 13q14 are associated with childhood atopic dermatitis.

Jang N et al.

Genes and Immunity, 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."