Varaico: Literature-Extracted Genetic Variants

Gene:TAPBP
Variant:p.K104delFs
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TAPBP

NM_003190.5:p.K104delFs

Associated Papers

TAP-I Deficiency Presenting With Chronic Granulomatous Rubella Virus-Driven Cutaneous Ulceration: A Case Report and Scoping Literature Review.

Ponsford MJ et al.

Journal of Clinical Immunology, 2025

41298860 (PubMed )
Supplement: 10875_2025_1919_MOESM1_ESM.xlsx › Included

Phenotypic and pathomechanistic overlap between tapasin and TAP deficiencies.

Elsayed A et al.

The Journal of Allergy and Clinical Immunology, 2024

Clinical, immunological, and molecular findings in two patients with MHC class I deficiency and post-transplant outcome.

Ramalingam TR et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2024

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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."