Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G710V
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ATP7B

NM_000053.4:p.G710V

Associated Papers

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Singh N et al.

Plos One, 2019

31059521 (PubMed )
Supplement: pone.0215779.s001.pdf

Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.

Zhu HW et al.

World Journal of Pediatrics : Wjp, 2017

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

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."