Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G836E
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ATP7B

NM_000053.4:p.G836E

Associated Papers

Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.

Djebrani-Oussedik N et al.

Jhep Reports : Innovation in Hepatology, 2025

40980162 (PubMed )
Supplement: mmc1.pdf

Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review.

Benzine H et al.

Biochemical Genetics, 2025

Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.

Al-Obaidi RG et al.

Saudi Medical Journal, 2025

Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.

Lao TD et al.

Biomarker Insights, 2024

Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.

Lafhal K et al.

Molecular Genetics and Metabolism Reports, 2023

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1

Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.

Lepori MB et al.

Molecular and Cellular Probes, 2012

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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."