Associated Papers
Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.
Steiner Mrázová L et al.
Human Mutation, 2026
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
40980162 (PubMed )
Supplement: mmc1.pdf
Diving deep: Finding pathogenic intronic variants and making them actionable.
Schaefer B et al.
Journal of Hepatology, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Genetics of liver disease in adults.
Konkwo C et al.
Hepatology Communications, 2024
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
Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.
Lao TD et al.
Biomarker Insights, 2024
Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease.
Panzer M et al.
Hepatology Communications, 2022
Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.
Fang Y et al.
Frontiers in Pediatrics, 2021
33763395 (PubMed )
Supplement: Data_Sheet_1.PDF
Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?
Espinós C et al.
Jhep Reports : Innovation in Hepatology, 2020
A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in the ATP7B Gene.
Zhou X et al.
Frontiers in Genetics, 2020
33719328 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
31059521 (PubMed )
Supplement: pone.0215779.s001.pdf
Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.
Gojová L et al.
Clinical Genetics, 2008
Ethnic specific background of mutations in Bulgarian patients with Wilson disease.
Todorov T et al.
Genetic Counseling (geneva, Switzerland), 2007
Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.
Todorov T et al.
Clinical Genetics, 2005
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
Vrabelova S et al.
Molecular Genetics and Metabolism, 0
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