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
40980162 (PubMed )
Supplement: mmc1.pdf
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
40332002 (PubMed )
Supplement: ijms-26-03509-s001.zip › Table_S1._Medically_ACMG_actionable_findings_and_carrier_status_identified_in_our_study.xlsx › Allele_frequencies
Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.
Al-Obaidi RG et al.
Saudi Medical Journal, 2025
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Wilson's Disease: First Report of Two Combined Mutational Variants in a Portuguese Patient.
Trindade M et al.
European Journal of Case Reports in Internal Medicine, 2022
Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.
García-Villarreal L et al.
Journal of Gastroenterology, 2021
Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.
Sánchez-Monteagudo A et al.
Clinical Genetics, 2020
Behavioural and psychiatric disorders in paediatric Wilson's disease.
Silva F et al.
Bmj Case Reports, 2011
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
Loudianos G et al.
Human Mutation, 2002
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