Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.Q294*
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TP63

NM_003722.5:p.Q294*

Associated Papers

Molecular and Cellular Function of p63 in Skin Development and Genetic Diseases.

Di Girolamo D et al.

The Journal of Investigative Dermatology, 2025

Disease-related p63 DBD mutations impair DNA binding by distinct mechanisms and varying degree.

Osterburg C et al.

Cell Death & Disease, 2023

Isoform-Specific Roles of Mutant p63 in Human Diseases.

Osterburg C et al.

Cancers, 2021

High-performance liquid chromatography under partially denaturing conditions (dHPLC) is a fast and cost-effective method for screening molecular defects: four novel mutations found in X-linked chronic granulomatous disease.

de Oliveira-Junior EB et al.

Scandinavian Journal of Immunology, 2012

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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."