Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.K393M
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FOXP3

NM_014009.4:p.K393M

Associated Papers

FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia.

Pendleton KE et al.

Journal of Pediatric Genetics, 2024

IPEX Syndrome: Genetics and Treatment Options.

Ben-Skowronek I

Genes, 2021

The FKH domain in FOXP3 mRNA frequently contains mutations in hepatocellular carcinoma that influence the subcellular localization and functions of FOXP3.

Ren J et al.

The Journal of Biological Chemistry, 2020

Molecular feature and therapeutic perspectives of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Huang Q et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2020

FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Hwang JL et al.

Pediatric Diabetes, 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."