Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.K250delFs
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FOXP3

NM_014009.4:p.K250delFs

Associated Papers

Intrauterine IPEX.

Carneiro-Sampaio M et al.

Frontiers in Pediatrics, 2020

Recurrent Non Immune Fetal Hydrops Associated With IPEX Syndrome.

Shanes E et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 2019

Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.

Louie RJ et al.

American Journal of Medical Genetics. Part A, 2017

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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."