Varaico: Literature-Extracted Genetic Variants

Gene:TAP2
Variant:p.M218K
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TAP2

NM_001290043.2:p.M218K

Associated Papers

Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.

Kuehn HS et al.

The Journal of Clinical Investigation, 2024

38015619 (PubMed )
Supplement: jci-134-172573-s088.xlsx › Sheet1
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