Novel ITPA variants identified by whole genome sequencing and RNA sequencing
Novel ITPA variants identified by whole genome sequencing and RNA sequencing
About this item
Full title
Author / Creator
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Approximately 80% of rare diseases have a genetic cause, and an accurate genetic diagnosis is necessary for disease management, prognosis prediction, and genetic counseling. Whole-exome sequencing (WES) is a cost-effective approach for exploring the genetic cause, but several cases often remain undiagnosed. We combined whole genome sequencing (WGS)...
Alternative Titles
Full title
Novel ITPA variants identified by whole genome sequencing and RNA sequencing
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2856653628
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2856653628
Other Identifiers
ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-023-01156-y
