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
Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants.
Salamon A et al.
International Journal of Molecular Sciences, 2023
37445923 (PubMed )
Supplement: ijms-24-10745-s001.zip › ijms-2457225-supplementary.pdf
ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.
Wallace DF et al.
Human Genetics, 2020
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
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