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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 pae...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2954774922

Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort

About this item

Full title

Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort

Publisher

England: BMJ Publishing Group Ltd

Journal title

Journal of medical genetics, 2024-07, Vol.61 (7), p.645-651

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group Ltd

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

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

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