Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G869E
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ATP7B

NM_000053.4:p.G869E

Associated Papers

Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.

Al-Obaidi RG et al.

Saudi Medical Journal, 2025

Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.

Lorente-Arencibia P et al.

Journal of Pediatric Gastroenterology and Nutrition, 2022

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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."