Varaico: Literature-Extracted Genetic Variants

Gene:ITGB6
Variant:p.R616*
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ITGB6

NM_000888.5:p.R616*

Associated Papers

Molecular-based phenotype variations in amelogenesis imperfecta.

Dong J et al.

Oral Diseases, 2023

Novel ITGB6 variants cause hypoplastic-hypomineralized amelogenesis imperfecta and taurodontism: characterization of tooth phenotype and review of literature.

Sriwattanapong K et al.

Bdj Open, 2023

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

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_S4-1_Final_021921.xlsx › Table_S3.1

The ITGB6 gene: its role in experimental and clinical biology.

Meecham A et al.

Gene: X, 2020

Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Smith CEL et al.

Frontiers in Physiology, 2017

Novel ITGB6 mutation in autosomal recessive amelogenesis imperfecta.

Seymen F et al.

Oral Diseases, 2015

ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.

Wang SK et al.

Human Molecular Genetics, 2014

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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."