Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.S311G
Back to variants list

TP63

NM_003722.5:p.S311G

Associated Papers

Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.

Hizem S et al.

Ophthalmic Genetics, 2024

Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.

Yoshioka H et al.

International Journal of Molecular Sciences, 2021

33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-5_Final_021921.xlsx › Table_S3.5

Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.

Clements SE et al.

The British Journal of Dermatology, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."