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Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity

Silico PredictionMolecular Diagnostic TechniquesMendelian DisorderGenetic DisorderMedicineGeneticsPathogenesisPathologyNovel Pex6 MutationMolecular GeneticsDisease Gene IdentificationMolecular DiagnosticsClinical GeneticsMild Zellweger