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A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient

Snp Array AnalysisGenetic DisorderChinese Arsacs PatientGeneticsMedicineNext-generation SequencingWhole Exome SequencingPathologyMolecular GeneticsGenome SequencingDisease Gene IdentificationGenomicsMolecular Diagnostics