Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.A861T
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ATP7B

NM_000053.4:p.A861T

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

Sequence variation database for the Wilson disease copper transporter, ATP7B.

Kenney SM et al.

Human Mutation, 2007

Three atypical cases of Wilson disease: assessment of the Leipzig scoring system in making a diagnosis.

Xuan A et al.

Journal of Hepatology, 2007

Structure of the actuator domain from the Archaeoglobus fulgidus Cu(+)-ATPase.

Sazinsky MH et al.

Biochemistry, 2006

Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry.

Cox DW et al.

Human Mutation, 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."