Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.D1222N
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ATP7B

NM_000053.4:p.D1222N

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

In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.

Squitti R et al.

Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2014

Potential of the international scoring system for the diagnosis of Wilson disease to differentiate Japanese patients who need anti-copper treatment.

Tatsumi Y et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2011

Structure of the ATP binding domain from the Archaeoglobus fulgidus Cu+-ATPase.

Sazinsky MH et al.

The Journal of Biological Chemistry, 2006

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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."