Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.I324del1
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TP63

NM_003722.5:p.I324del1

Associated Papers

A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC.

Marakhonov A et al.

International Journal of Molecular Sciences, 2024

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

Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.

Giampietro PF et al.

American Journal of Medical Genetics. Part A, 2013

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