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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBXO8

Variant:p.L128F

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FBXO8

NM_012180.3:p.L128F

hg38:chr4:174259771 T>A

Associated Papers

Mutations from patients with IPEX ported to mice reveal different patterns of FoxP3 and Treg dysfunction.

Leon J et al.

Cell Reports, 2023

37605532 (PubMed )

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