Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening.

D'Annibale OM, Koppes EA, Sethuraman M, Bloom K, Mohsen AW, Vockley J
J Inherit Metab Dis. 2022 May;45(3):529-540. doi: 10.1002/jimd.12492. Epub 2022 Mar 11. PubMed Article

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