Associated Papers
Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.
Wilhelm K et al.
Frontiers in Genetics, 2022
35692825 (PubMed )
Supplement: DataSheet1.xlsx › Supplemental_Table_4-SNPS_GO
Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.
Maier EM et al.
Human Molecular Genetics, 2009
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