Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.E1081_E1082Splc
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ATP7B

NM_000053.4:p.E1081_E1082Splc

Associated Papers

Wilson's disease presenting as an isolated adult-onset cervical dystonia.

Kumar N et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Postinfectious Manifestation of Wilson's Disease in COVID-19 Presenting as Writer's Cramp: A Case Report.

Verma R et al.

Acta Neurologica Taiwanica, 2025

Investigating common mutations in ATP7B gene and the prevalence of Wilson's disease in the Thai population using population-based genome-wide datasets.

Own-Eium P et al.

Journal of Human Genetics, 2025

Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.

Nagral A et al.

Indian Journal of Pediatrics, 2023

Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.

Xiao Z et al.

Molecular Genetics & Genomic Medicine, 2021

ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.

Wallace DF et al.

Human Genetics, 2020

Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.

Aggarwal A et al.

Annals of Human Genetics, 2013

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."