Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.V272_A273Splc
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FOXP3

NM_014009.4:p.V272_A273Splc

Associated Papers

IPEX as a Consequence of Alternatively Spliced FOXP3.

Mailer RK

Frontiers in Pediatrics, 2020

IPEX due to an exon 7 skipping FOXP3 mutation with autoimmune diabetes mellitus cured by selective TReg cell engraftment.

Magg T et al.

Clinical Immunology (orlando, Fla.), 2018

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

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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."