Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.L114delFs
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CTLA4

NM_005214.5:p.L114delFs

Associated Papers

Case report: Challenges in immune reconstitution following hematopoietic stem cell transplantation for CTLA-4 insufficiency-like primary immune regulatory disorders.

Margarit-Soler A et al.

Frontiers in Immunology, 2022

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

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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."