Varaico: Literature-Extracted Genetic Variants

Gene:MBD6
Variant:p.G85V
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MBD6

NM_052897.4:p.G85V

Associated Papers

The Structure of Metal Binding Domain 1 of the Copper Transporter ATP7B Reveals Mechanism of a Singular Wilson Disease Mutation.

Yu CH et al.

Scientific Reports, 2018

Disease-causing point-mutations in metal-binding domains of Wilson disease protein decrease stability and increase structural dynamics.

Kumar R et al.

Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2017

Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.

Lepori MB et al.

Molecular and Cellular Probes, 2012

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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."