Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a pae...
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort
About this item
Full title
Author / Creator
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
BackgroundStudies indicate that variants of uncertain significance are more common in non-European populations due to lack of a diversity in population databases. This difference has not been explored in epilepsy, which is increasingly found to be genetic in paediatric populations, and has precision medicine applications. This study examines the di...
Alternative Titles
Full title
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2954774922
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2954774922
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg-2023-109450