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Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.

Diabetes - 1 May 2022

Laver Thomas W, Wakeling Matthew N, Knox Olivia, Colclough Kevin, Wright Caroline F, Ellard Sian, Hattersley Andrew T, Weedon Michael N, Patel Kashyap A

Abstract excerpt

Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of monogenic diabetes, reported to be caused by variants in 16 genes. Concern has been raised about whether variants in BLK (MODY11), KLF11 (MODY7), and PAX4 (MODY9) cause MODY. We examined variant-level genetic evidence (cosegregation with diabetes and frequency in population) for published putative pathogenic variants in these genes and...

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PMID: 35108381
DOI: 10.2337/db21-0844
PMCID: PMC9044126

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Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.PMID 35108381Read ↗

Evaluation of evidence for pathogenicity demonstrates that<i>BLK, KLF11</i>and<i>PAX4</i>should not be included in diagnostic testing for MODYSemantic proximity Read ↗

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