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Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank

Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2179225064

Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank

About this item

Full title

Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank

Publisher

England: BMJ Publishing Group LTD

Journal title

Journal of medical genetics, 2019-03, Vol.56 (3), p.131-138

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group LTD

More information

Scope and Contents

Contents

BackgroundGenomic CNVs increase the risk for early-onset neurodevelopmental disorders, but their impact on medical outcomes in later life is still poorly understood. The UK Biobank allows us to study the medical consequences of CNVs in middle and old age in half a million well-phenotyped adults.MethodsWe analysed all Biobank participants for the pr...

Alternative Titles

Full title

Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2179225064

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2179225064

Other Identifiers

ISSN

0022-2593

E-ISSN

1468-6244

DOI

10.1136/jmedgenet-2018-105477

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