Associated Papers
Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India.
Kulkarni AV et al.
Gastro Hep Advances, 2025
WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.
Vatsyayan A et al.
Plos One, 2024
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
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.
Collins CJ et al.
Gastroenterology, 2021
The dilemma to diagnose Wilson disease by genetic testing alone.
Stättermayer AF et al.
European Journal of Clinical Investigation, 2019
Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.
Kluska A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2019
Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.
Zhu HW et al.
World Journal of Pediatrics : Wjp, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.
Squitti R et al.
Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2014
Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.
Usta J et al.
Jimd Reports, 2012
Hepatocyte GP73 expression in Wilson disease.
Wright LM et al.
Journal of Hepatology, 2009
Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients.
Stuehler B et al.
Journal of Molecular Medicine (berlin, Germany), 2004
High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.
Caca K et al.
Journal of Hepatology, 2001
His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.
Duc HH et al.
European Journal of Human Genetics : Ejhg, 0