Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.A756A
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ATP7B

NM_000053.4:p.A756A

Associated Papers

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

Early Diagnosis of Wilson's Disease in Children in Southern China by Using Common Parameters.

Zhou J et al.

Frontiers in Genetics, 2022

A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in the ATP7B Gene.

Zhou X et al.

Frontiers in Genetics, 2020

33719328 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration.

Zong YN et al.

Genetics and Molecular Research : Gmr, 2015

Ethnic specific background of mutations in Bulgarian patients with Wilson disease.

Todorov T et al.

Genetic Counseling (geneva, Switzerland), 2007

Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.

Todorov T et al.

Clinical Genetics, 2005

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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."