Genomics

Dataset Information

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In-silico structural analysis of a case study of DHCR24-related sterol biosynthesis disorder


ABSTRACT: Whole Exome Sequencing of a patient affected by desmosterolosis

INSTRUMENT(S): Illumina NovaSeq 6000

ORGANISM(S): Homo Sapiens

SUBMITTER: IRCCS Ospedale Pediatrico del Bambino Gesu' 

PROVIDER: PRJEB70403 | EVA | 2023-11-24

REPOSITORIES: EVA

Dataset's files

Source:
Action DRS
GM201219408.hard-filtered.vcf.csi Other
GM201219408.hard-filtered.vcf.gz Vcf
GM201219408.hard-filtered.vcf.gz.csi Vcf
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