Varaico: Literature-Extracted Genetic Variants

Gene:ITGB6
Variant:p.E300K
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ITGB6

NM_000888.5:p.E300K

Associated Papers

Axon development is regulated at genetic and proteomic interfaces between the integrin adhesome and the RPM-1 ubiquitin ligase signaling hub.

Amezquita J et al.

Biorxiv : the Preprint Server for Biology, 2023

38014183 (PubMed )
Supplement: media-8.xlsx › Human_Genetic_Variants

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

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

Meecham A et al.

Gene: X, 2020

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability.

Ansar M et al.

European Journal of Human Genetics : Ejhg, 2016

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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."