Varaico: Literature-Extracted Genetic Variants

Gene:ABCC6
Variant:p.Q363*
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ABCC6

NM_001171.6:p.Q363*

Associated Papers

The ABCC6 Transporter: A New Player in Biomineralization.

Favre G et al.

International Journal of Molecular Sciences, 2017

28891970 (PubMed )
Supplement: ijms-18-01941-s001.xlsx › Sheet1

Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter.

Hosen MJ et al.

Plos One, 2014

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

Pfendner EG et al.

Journal of Medical Genetics, 2007

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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."