Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.R226C
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TP63

NM_003722.5:p.R226C

Associated Papers

Novel MMP20 (matrix metalloproteinase 20) mutations causing hypoplastic-hypomaturation amelogenesis imperfecta.

Wang SK et al.

Journal of Dental Sciences, 2026

Chronic granulomatous disease in the United Arab Emirates: clinical and molecular characteristics in a single center.

Al Kuwaiti AA et al.

Frontiers in Immunology, 2023

Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).

Gérard B et al.

Human Mutation, 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."