Associated Papers
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Calvo JS et al.
Human Mutation, 2025
40661833 (PubMed )
Supplement: 7485658.f1.pdf
WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.
Vatsyayan A et al.
Plos One, 2024
38758754 (PubMed )
Supplement: pone.0303787.s016.xlsx › S4table
Wilson disease-causing mutations in the carboxyl terminus of ATP7B regulates its localization and Golgi exit selectively in the unpolarized cells.
Chakraborty K et al.
Metallomics : Integrated Biometal Science, 2023
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype-phenotype correlation in Wilson disease.
Das S et al.
Human Mutation, 2022
Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.
Kluska A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2019
Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease.
Guttmann S et al.
Frontiers in Pediatrics, 2018
Clinical features of hemolysis, elevated liver enzymes, and low platelet count syndrome in undiagnosed Wilson disease: report of two cases.
Członkowska A et al.
Archives of Gynecology and Obstetrics, 2010
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