Associated Papers
Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
Klippel C et al.
International Journal of Neonatal Screening, 2025
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Calvo JS et al.
Human Mutation, 2025
40661833 (PubMed )
Supplement: 7485658.f1.pdf
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
Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?
Espinós C et al.
Jhep Reports : Innovation in Hepatology, 2020
Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.
Sánchez-Monteagudo A et al.
Clinical Genetics, 2020
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