Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.
Frontiers in Genetics（2022）
关键词
newborn screening,longitudinal data,inborn errors of metabolism,newborn screening translational research network (NBSTRN),longitudinal pediatric data resource (LPDR),clinvar,variant classification,American college of medical genetics and genomics (ACMG)
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