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
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
39020067 (PubMed )
Supplement: 41431_2024_1656_MOESM1_ESM.xls › Table_1
Genetically Confirmed Wilson Disease: A Retrospective Cohort Study From Bahrain.
Isa HM et al.
Cureus, 2024
ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease.
Gorukmez O et al.
Fetal and Pediatric Pathology, 2023
Role of RNA Alternative Splicing in T Cell Function and Disease.
Banerjee S et al.
Genes, 2023
37895245 (PubMed )
Supplement: genes-14-01896-s001.zip › Supplementary_Table.xlsx › Supplementary_Table
Transposon clusters as substrates for aberrant splice-site activation.
Alvarez MEV et al.
Rna Biology, 2021
32965162 (PubMed )
Supplement: KRNB_A_1805909_SM0818.zip › Supplementary_information › Supplementary_Table_S1.pdf
Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family.
Khan HN et al.
Molecular Biology Reports, 2018
tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine.
Wei CH et al.
Bioinformatics (oxford, England), 2018
Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance.
Barada K et al.
World Journal of Gastroenterology, 2017
The same haplotype for two unrelated Wilson disease patients with new ATP7B mutation.
Dastsooz H et al.
Archives of Iranian Medicine, 2014
The Pragmatic Treatment of Wilson's Disease.
Aggarwal A et al.
Movement Disorders Clinical Practice, 2014
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
Dastsooz H et al.
Gene, 2013
Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease.
Dastsooz H et al.
Hepatitis Monthly, 2013
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