Varaico: Literature-Extracted Genetic Variants

Gene:UVRAG
Variant:p.G343D
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UVRAG

NM_003369.4:p.G343D

Associated Papers

Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia.

Gall A et al.

Frontiers in Immunology, 2024

Sweating ability of patients with p63-associated syndromes.

Ferstl P et al.

European Journal of Pediatrics, 2018

P63 mutations are not a major cause of non-syndromic split hand/foot malformation.

de Mollerat XJ et al.

Journal of Medical Genetics, 2003

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

van Bokhoven H et al.

American Journal of Human Genetics, 2001

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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."