Varaico: Literature-Extracted Genetic Variants

Gene:MBD6
Variant:p.S199C
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MBD6

NM_052897.4:p.S199C

Associated Papers

The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations.

Ariöz C et al.

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

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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."