Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.E583fs
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ATP7B

NM_000053.4:p.E583fs

Associated Papers

The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

Kumar M et al.

Movement Disorders Clinical Practice, 2025

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

Lafhal K et al.

Molecular Genetics and Metabolism Reports, 2023

Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.

Kumari N et al.

Human Mutation, 2018

A genetic study of Wilson's disease in the United Kingdom.

Coffey AJ et al.

Brain : a Journal of Neurology, 2013

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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."