Associated Papers
Pathogenicity analysis of ATP7B in pediatric patients with Wilson's disease and functional verification of alternative splice variants.
Wang Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease.
Xu WQ et al.
The Journal of Molecular Diagnostics : Jmd, 2023
A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in the ATP7B Gene.
Zhou X et al.
Frontiers in Genetics, 2020
33719328 (PubMed )
Supplement: Table_1.XLSX › Sheet1
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