Varaico: Literature-Extracted Genetic Variants

Gene:TAP1
Variant:p.R378*
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TAP1

NM_000593.6:p.R378*

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

Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations- Are Genotype-Phenotype Correlations Emerging?

Bhattarai D et al.

Journal of Clinical Immunology, 2025

Clinical and immunological spectrum of MHC class I deficiency: insights from a long-term cohort with two novel mutations.

Haskologlu S et al.

Frontiers in Immunology, 2025

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