Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.N388S
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FOXP3

NM_014009.4:p.N388S

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

Functional reprogramming of regulatory T cells in the absence of Foxp3.

Charbonnier LM et al.

Nature Immunology, 2019

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Barzaghi F et al.

The Journal of Allergy and Clinical Immunology, 2018

Persistent Enteropathy in a Toddler with a Novel FOXP3 Mutation and Normal FOXP3 Protein Expression.

Seghezzo S et al.

The Journal of Pediatrics, 2017

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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."