Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G1149R
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ATP7B

NM_000053.4:p.G1149R

Associated Papers

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

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

Current Management of Neurological Wilson's Disease.

Ganaraja VH et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2025

Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India.

Kulkarni AV et al.

Gastro Hep Advances, 2025

40761701 (PubMed )
Supplement: mmc1.docx

Clinical and Genetic Analysis in Neurological Wilson's Disease Patients With Neurological Worsening Following Chelator Therapy.

Hou H et al.

Frontiers in Genetics, 2022

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

Li M et al.

Bmc Gastroenterology, 2021

Mutational analysis of ATP7B in Chinese Wilson disease patients.

Hua R et al.

American Journal of Translational Research, 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."