Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.Q1004*
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ATP7B

NM_000053.4:p.Q1004*

Associated Papers

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

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

Li M et al.

Bmc Gastroenterology, 2021

Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.

Li X et al.

Human Mutation, 2019

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."