Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.D1222V
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ATP7B

NM_000053.4:p.D1222V

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

Diverse functional properties of Wilson disease ATP7B variants.

Huster D et al.

Gastroenterology, 2012

Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.

Loudianos G et al.

Journal of Medical Genetics, 1999

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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."