Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.Q245_L246Splc
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FOXP3

NM_014009.4:p.Q245_L246Splc

Associated Papers

Atypical Presentations of IPEX: Expect the Unexpected.

Consonni F et al.

Frontiers in Pediatrics, 2021

IPEX as a Consequence of Alternatively Spliced FOXP3.

Mailer RK

Frontiers in Pediatrics, 2020

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.

Gambineri E et al.

Frontiers in Immunology, 2018

Quantitative analysis of tissue inflammation and responses to treatment in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, and review of literature.

Chen CA et al.

Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi, 2016

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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."