Varaico: Literature-Extracted Genetic Variants

Gene:TAP1
Variant:p.Q522*
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TAP1

NM_000593.6:p.Q522*

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

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

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

Bhattarai D et al.

Journal of Clinical Immunology, 2025

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
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