Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.P1070R
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ATP7B

NM_000053.4:p.P1070R

Associated Papers

A rare presentation of Wilson disease with normal levels of serum ceruloplasmin and copper and MODY: A case report.

Han M et al.

Medicine, 2025

Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.

Li M et al.

Bmc Gastroenterology, 2021

Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations.

Sriretnakumar V et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2019

Direct sequencing of mutations in the copper-transporting P-type adenosine triphosphate (ATP7B) gene for diagnosis and pathogenesis of Wilson's disease.

Zhang DF et al.

Genetics and Molecular Research : Gmr, 2016

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.

Dong Y et al.

Theranostics, 2016

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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."