Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.C424Y
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FOXP3

NM_014009.4:p.C424Y

Associated Papers

IPEX syndrome from diagnosis to cure, learning along the way.

Bacchetta R et al.

The Journal of Allergy and Clinical Immunology, 2024

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

Kingsmore SF et al.

American Journal of Human Genetics, 2022

36007526 (PubMed )
Supplement: mmc2.xlsx › Table_S8

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

The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Bin Dhuban K et al.

Current Opinion in Allergy and Clinical Immunology, 2015

FOXP3: genetic and epigenetic implications for autoimmunity.

Katoh H et al.

Journal of Autoimmunity, 2013

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

Barzaghi F et al.

Frontiers in Immunology, 2012

Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning.

Rao A et al.

Blood, 2007

Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor.

Lopes JE et al.

Journal of Immunology (baltimore, Md. : 1950), 2006

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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."