Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.L722fs
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ATP7B

NM_000053.4:p.L722fs

Associated Papers

Genetic profiling of Wilson disease reveals a potential recurrent pathogenic variant of ATP7B in the Jordanian population.

Khdair Ahmad F et al.

Journal of Pediatric Gastroenterology and Nutrition, 2025

Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.

Zhu HW et al.

World Journal of Pediatrics : Wjp, 2017

A genetic study of Wilson's disease in the United Kingdom.

Coffey AJ et al.

Brain : a Journal of Neurology, 2013

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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."