EVAapplication/xmlftp://ftp.ebi.ac.uk/pub/databases/eva/PRJEB70403/GM201219408.hard-filtered.vcf.gzftp://ftp.ebi.ac.uk/pub/databases/eva/PRJEB70403/GM201219408.hard-filtered.vcf.gz.csiftp://ftp.ebi.ac.uk/pub/databases/eva/PRJEB70403/GM201219408.hard-filtered.vcf.csiprimaryOK2000000Exome SequencingGenomicsIRCCS Ospedale Pediatrico del Bambino Gesu'Illumina NovaSeq 6000Homo Sapienshttps://www.ebi.ac.uk/eva/?eva-study=PRJEB70403EVAstudy, inborn error of sterol biosynthetic process, mKIAA0018, DCE, seladin-1, determination, inborn sterol biosynthetic process disorder, chemical analysis, rare inborn error of sterol biosynthetic process., 5830417J06Rik, assay, Nbla03646, SELADIN1, 2310076D10Rikdesmosterolosis, WES, Complete Transcriptome, Exome Sequencing, Whole Exome, Complete, Complete Transcriptome Sequencing, Exome Sequencings, Complete Exome Sequencings, Patient, Complete Exome, Clients, Whole, Complete Exome Sequencing, Whole Transcriptome Sequencing, Whole Exome Sequencing, Exome, Whole Transcriptome, Transcriptome Sequencing, DESMOS., patient, Transcriptome Sequencings, Client, Sequencing0falseIn-silico structural analysis of a case study of DHCR24-related sterol biosynthesis disorderWhole Exome Sequencing of a patient affected by desmosterolosis2023-11-24PRJEB704039606