Associated Papers
Investigating common mutations in ATP7B gene and the prevalence of Wilson's disease in the Thai population using population-based genome-wide datasets.
Own-Eium P et al.
Journal of Human Genetics, 2025
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
Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.
Zhang S et al.
Translational Neurodegeneration, 2022
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1
Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.
Sha Y et al.
Bmc Medical Genetics, 2019
31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1
The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations.
Ariöz C et al.
Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2017
Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.
Jang JH et al.
Journal of Human Genetics, 2017
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
High-resolution melting: applications in genetic disorders.
Er TK et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
Development of a high-resolution melting method for the screening of Wilson disease-related ATP7B gene mutations.
Lin CW et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Genetic polymorphisms of copper- and platinum drug-efflux transporters ATP7A and ATP7B in Japanese cancer patients.
Fukushima-Uesaka H et al.
Drug Metabolism and Pharmacokinetics, 2009
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