https://www.selleckchem.com/pr....oducts/cycloheximide
0%) compared with patients less then 50 years (24.2%). Additionally, a diagnostic yield of 1.8% was attributable to copy number variants. Conclusions Phenotype-based genetic testing panels provide a targeted testing approach and reduce bioinformatics demand. The overall diagnostic yield achieved in this study reflects the wide range of phenotypes that were referred. This pragmatic approach provides a high yield for early-onset and clearly defined genetically determined disorders but clinical utility is not as clear for late-onset
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