Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G1030S
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ATP7B

NM_000053.4:p.G1030S

Associated Papers

PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine.

Alfayyadh MM et al.

Clinical Genetics, 2025

Actionable Pharmacogenetic Variation in the Slovenian Genomic Database.

Hočevar K et al.

Frontiers in Pharmacology, 2019

30930780 (PubMed )
Supplement: Table_5.xlsx › Sheet1

ATP7B Gene Mutations in Croatian Patients with Wilson Disease.

Ljubić H et al.

Genetic Testing and Molecular Biomarkers, 2016

Hepatocyte GP73 expression in Wilson disease.

Wright LM et al.

Journal of Hepatology, 2009

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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."