Varaico: Literature-Extracted Genetic Variants

Gene:ITGB6
Variant:p.N48I
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ITGB6

NM_000888.5:p.N48I

Associated Papers

Using computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta.

Sharmin N et al.

Plos One, 2025

40569950 (PubMed )
Supplement: pone.0326679.s001.pdf

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

Meecham A et al.

Gene: X, 2020

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."