Journal of Human Genetics · 2012 · 32 citations · 33 references
Life SciencesGeneticsMolecular GeneticsMedical GeneticsMitochondrial BiologyMolecular PathologyMitochondrial DisordersMitochondrial DysfunctionVariant InterpretationWilson DiseaseAtp7b FunctionAtp7b Gene MutationsAtpase Copper Transporting Beta (Atp7b)Mutational Spectrum AnalysisPathogenic Variant AssociationWilson Disease Pathophysiology
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dbSNP: the NCBI database of genetic variation
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