Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.C347Y
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TP63

NM_003722.5:p.C347Y

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

TP63-related disorders: two case reports and a brief review of the literature.

Nanda A et al.

Dermatology Online Journal, 2021

A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.

Jin JY et al.

The Journal of Gene Medicine, 2019

A newborn with overlapping features of AEC and EEC syndromes.

Celik TH et al.

American Journal of Medical Genetics. Part A, 2011

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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."