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Article

Recurrent 17q12 microduplications contribute to renal disease but not diabetes.

Journal of medical genetics - 1 May 2023

Cannon Stuart, Clissold Rhian, Sukcharoen Kittiya, Tuke Marcus, Hawkes Gareth, Beaumont Robin N, Wood Andrew R, Gilchrist Mark, Hattersley Andrew T, Oram Richard A, Patel Kashyap, Wright Caroline, Weedon Michael N

Abstract excerpt

BACKGROUND: 17q12 microdeletion and microduplication syndromes present as overlapping, multisystem disorders. We assessed the disease phenotypes of individuals with 17q12 CNV in a population-based cohort. METHODS: We investigated 17q12 CNV using microarray data from 450 993 individuals in the UK Biobank and calculated disease status associations for diabetes, liver and renal function, neurological and psychiatric...

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Identifiers

PMID: 36109160
DOI: 10.1136/jmg-2022-108615
PMCID: PMC10176419

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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