Associated Papers
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
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
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
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
Diverse functional properties of Wilson disease ATP7B variants.
Huster D et al.
Gastroenterology, 2012
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
Weiss KH et al.
Journal of Inherited Metabolic Disease, 2010
Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.
Merle U et al.
Bmc Gastroenterology, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-
Sequence variation database for the Wilson disease copper transporter, ATP7B.
Kenney SM et al.
Human Mutation, 2007
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
de Bie P et al.
Journal of Medical Genetics, 2007
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
Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease.
Genschel J et al.
Human Mutation, 2001
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