Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.W348_A349Splc
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FOXP3

NM_014009.4:p.W348_A349Splc

Associated Papers

Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops--Expanding the phenotype of IPEX syndrome.

Reichert SL et al.

American Journal of Medical Genetics. Part A, 2016

Fetal-onset IPEX: report of two families and review of literature.

Xavier-da-Silva MM et al.

Clinical Immunology (orlando, Fla.), 2015

Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.

Barzaghi F et al.

Frontiers in Immunology, 2012

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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."