Associated Papers
Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India.
Kulkarni AV et al.
Gastro Hep Advances, 2025
Clinical and genetic characterization of patients with late onset Wilson's disease.
Yang W et al.
Npj Genomic Medicine, 2024
39719440 (PubMed )
Supplement: 41525_2024_459_MOESM1_ESM.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
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
35079019 (PubMed )
Supplement: 41525_2021_280_MOESM1_ESM.pdf
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
Direct sequencing of mutations in the copper-transporting P-type adenosine triphosphate (ATP7B) gene for diagnosis and pathogenesis of Wilson's disease.
Zhang DF et al.
Genetics and Molecular Research : Gmr, 2016
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
Dong Y et al.
Theranostics, 2016
Mutational analysis of ATP7B in Chinese Wilson disease patients.
Hua R et al.
American Journal of Translational Research, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.
Davies LP et al.
Genetic Testing, 2008
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