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Article

Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene.

European journal of human genetics : EJHG - 1 Jan 2023

Boehm Bernhard O, Kratzer Wolfgang, Bansal Vikas

Abstract excerpt

Pathogenic variants in more than 14 genes have been implicated in monogenic diabetes; however, a significant fraction of individuals with young-onset diabetes and a strong family history of diabetes have unknown genetic etiology. To identify novel pathogenic alleles for monogenic diabetes, we performed whole-genome sequencing (WGS) on four related individuals with type 2 diabetes - including one individual...

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Identifiers

PMID: 36202929
DOI: 10.1038/s41431-022-01182-y
PMCID: PMC9823100

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