Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.P75L
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FOXP3

NM_014009.4:p.P75L

Associated Papers

Enigmatic missense mutations can cause disease via creation of de novo nuclear export signals.

McConville BM et al.

Biorxiv : the Preprint Server for Biology, 2024

A case report of IPEX syndrome in Palestine: detailed family identification and breadth of disorders with the same defect.

Malhis L et al.

Frontiers in Pediatrics, 2024

FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.

Wyatt RC et al.

Journal of Clinical Immunology, 2023

Case Report: FOXP3 Mutation in a Patient Presenting With ALPS.

Rais A et al.

Frontiers in Immunology, 2021

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