Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.P354delFs
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FOXP3

NM_014009.4:p.P354delFs

Associated Papers

Sirolimus alleviated intractable diarrhea of IPEX syndrome: a case report and literature review.

Ye L et al.

Bmc Pediatrics, 2024

Atypical Presentations of IPEX: Expect the Unexpected.

Consonni F et al.

Frontiers in Pediatrics, 2021

Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.

Zama D et al.

Italian Journal of Pediatrics, 2014

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

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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."