Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.Y1331*
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ATP7B

NM_000053.4:p.Y1331*

Associated Papers

Pathogenicity analysis of ATP7B in pediatric patients with Wilson's disease and functional verification of alternative splice variants.

Wang Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025

Clinical and genetic characterization of pediatric patients with Wilson's disease from Yunnan province where ethnic minorities gather.

Wang Y et al.

Frontiers in Genetics, 2023

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

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

Zhu HW et al.

World Journal of Pediatrics : Wjp, 2017

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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."