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Exome Sequencing and the Management of Neurometabolic Disorders
Download from www.nejm.orgFurther Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy
Download from journals.sagepub.comDe novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome
Download from www.nature.comConsiderations for rare variants in drug metabolism genes and the clinical implications
UploadCharacterization of the genetic variation present in CYP3A4 in three South African populations
Download from dx.doi.orgNext-generation sequencing of pharmacogenes
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