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Statistical evidence for high‐penetrance MODY‐causing genes in a large population‐based cohort

Statistical evidence for high‐penetrance MODY‐causing genes in a large population‐based cohort

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_56355ec8fb674201884bb748614b43c6

Statistical evidence for high‐penetrance MODY‐causing genes in a large population‐based cohort

About this item

Full title

Statistical evidence for high‐penetrance MODY‐causing genes in a large population‐based cohort

Publisher

England: John Wiley & Sons, Inc

Journal title

Endocrinology, Diabetes & Metabolism, 2022-11, Vol.5 (6), p.e372-n/a

Language

English

Formats

Publication information

Publisher

England: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

Aims
Numerous genes have been proposed as causal for maturity‐onset diabetes of the young (MODY). Scoring systems to annotate mutation pathogenicity have been widely used; however, statistical evidence for being a highly penetrant MODY gene has not been well‐established.
Methods
Participants were from the UK Biobank with whole‐exome sequen...

Alternative Titles

Full title

Statistical evidence for high‐penetrance MODY‐causing genes in a large population‐based cohort

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_56355ec8fb674201884bb748614b43c6

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_56355ec8fb674201884bb748614b43c6

Other Identifiers

ISSN

2398-9238

E-ISSN

2398-9238

DOI

10.1002/edm2.372

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