ENAapplication/xmlftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR112/083/SRR11252083/SRR11252083_1.fastq.gzftp://ftp.sra.ebi.ac.uk/vol1/fastq/SRR112/083/SRR11252083/SRR11252083_2.fastq.gzprimaryOK200GenomicsThe First Affiliated Hospital of Shenzhen Universityhttps://www.ebi.ac.uk/ena/browser/view/PRJNA610829The whole-exome sequencing to identify missense variants in a patient with SCADENAdeficiency OF, lipid-storage myopathy secondary to short-chain acyl-Coa dehydrogenase deficiency, Acads deficiency, short-chain acyl-coenzyme A dehydrogenase deficiency, Scadh deficiency, ACADSD, Bcd1, Hdlq8, Scad deficiency, short-chain acyl-CoA dehydrogenase deficiency, Scad, short-chain, SCAD, acyl-CoA dehydrogenase, 1.3.8.1, Bcd-1, ACAD3., Butyryl-CoA dehydrogenase, AI196007falseSCAD variant sequencing2023-05-192020-03-24PRJNA610829