Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G1176E
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ATP7B

NM_000053.4:p.G1176E

Associated Papers

Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India.

Kulkarni AV et al.

Gastro Hep Advances, 2025

40761701 (PubMed )
Supplement: mmc1.docx

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

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."