Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.P88delFs
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FOXP3

NM_014009.4:p.P88delFs

Associated Papers

Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4+ T cell perturbations.

Zemmour D et al.

Nature Immunology, 2021

33833438 (PubMed )
Supplement: NIHMS1678410-supplement-Supplementary_Table_1.xls › Cohort_1

Atypical Presentations of IPEX: Expect the Unexpected.

Consonni F et al.

Frontiers in Pediatrics, 2021

Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study.

Duclaux-Loras R et al.

Clinical and Translational Gastroenterology, 2018

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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."