Varaico: Literature-Extracted Genetic Variants

Gene:ABCC6
Variant:p.Q363_L374del0
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ABCC6

NM_001171.6:p.Q363_L374del0

Associated Papers

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

Hosen MJ et al.

Plos One, 2014

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.

Chassaing N et al.

Journal of Medical Genetics, 2005

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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."