Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants.
Sign Up to like & getrecommendations! Published in 2022 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2022.0100
Abstract: Background: Conventional newborn screening (NBS) is usually based on biochemical methods to predict the risk of inborn errors of metabolism. Recent studies have applied next-generation sequencing in NBS and revealed much more information, including carrier… read more here.
Keywords: heterozygous variants; carrier status; carriers heterozygous; heterozygous carriers ... See more keywords