Associated Papers
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Calvo JS et al.
Human Mutation, 2025
WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.
Vatsyayan A et al.
Plos One, 2024
An association between ATP7B expression and human cancer prognosis and immunotherapy: a pan-cancer perspective.
Zhang Z et al.
Bmc Medical Genomics, 2023
Wilson's Disease-Genetic Puzzles with Diagnostic Implications.
Gromadzka G et al.
Diagnostics (basel, Switzerland), 2023
Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.
Zou H et al.
Nucleic Acids Research, 2022
Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.
Lorente-Arencibia P et al.
Journal of Pediatric Gastroenterology and Nutrition, 2022
Association of Variants in the CP, ATOX1 and COMMD1 Genes with Wilson Disease Symptoms in Latvia.
Zarina A et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
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
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease.
Zarina A et al.
Molecular Genetics & Genomic Medicine, 2017
Functional characterization of new mutations in Wilson disease gene (ATP7B) using the yeast model.
Papur OS et al.
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2015
Extrachromosomal driver mutations in glioblastoma and low-grade glioma.
Nikolaev S et al.
Nature Communications, 2014
Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.
Usta J et al.
Plos One, 2014
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
Simsek Papur O et al.
European Journal of Medical Genetics, 2013
From clinical and biochemical to molecular genetic diagnosis of Wilson disease in Latvia.
Krumina A et al.
Genetika, 2008