Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.Q457*
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ATP7B

NM_000053.4:p.Q457*

Associated Papers

Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing.

Akbulut S et al.

Diagnostics (basel, Switzerland), 2025

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 genetic characterization of pediatric patients with Wilson's disease from Yunnan province where ethnic minorities gather.

Wang Y et al.

Frontiers in Genetics, 2023

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Singh N et al.

Plos One, 2019

31059521 (PubMed )
Supplement: pone.0215779.s001.pdf

The genetics of Wilson disease.

Chang IJ et al.

Handbook of Clinical Neurology, 2017

Geographic distribution of ATP7B mutations in Wilson disease.

Gomes A et al.

Annals of Human Biology, 2016

Clinical and genetic analysis of pediatric patients with Wilson disease.

Şimşek Papur Ö et al.

The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2015

Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.

Simsek Papur O et al.

European Journal of Medical Genetics, 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."