Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.R1228T
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ATP7B

NM_000053.4:p.R1228T

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 molecular diagnosis of Wilson disease.

Bennett J et al.

Seminars in Liver Disease, 2011

Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.

Luoma LM et al.

Human Mutation, 2010

New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.

Davies LP et al.

Genetic Testing, 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."