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
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutants.
Chesi G et al.
Hepatology (baltimore, Md.), 2016
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
Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.
Forbes JR et al.
Human Molecular Genetics, 2000
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
Forbes JR et al.
American Journal of Human Genetics, 1998
Select a paper to view details