Publications by authors named "Taohan Miu"
Article Synopsis
- - The study aimed to verify the pathogenicity of uncertain genetic variants in newborns utilizing mass spectrometry and analysis, involving 3,071 participants across 35 centers.
- - Results indicated that 68.15% of subjects carried variants of uncertain significance (VUS), with those having pathogenic variants showing significantly higher levels of specific metabolites compared to non-variant groups.
- - The findings suggest that elevated metabolic biomarkers in VUS cases could indicate a likely pathogenic status, implying that mass spectrometry and analysis are promising methods for studying these genetic variants.
