Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.M1169T
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ATP7B

NM_000053.4:p.M1169T

Associated Papers

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Clinical presentation and mutations in Danish patients with Wilson disease.

Møller LB et al.

European Journal of Human Genetics : Ejhg, 2011

Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.

Hsi G et al.

Human Mutation, 2008

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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."