Associated Papers
Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing.
Akbulut S et al.
Diagnostics (basel, Switzerland), 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
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.
Li X et al.
Human Mutation, 2019
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
Córdoba M et al.
Plos One, 2018
Timely diagnosis of Wilson's disease using whole exome sequencing.
Rodríguez-Quiroga SA et al.
Parkinsonism & Related Disorders, 2015
[The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia].
Rodríguez-Quiroga SA et al.
Medicina, 2013
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