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

2021-09-22

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 (co-segregation with diabetes and frequency in population) for published putative pathogenic variants in these genes and us...

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Literature Corpus work
540f7f63-3ffb-59c5-af38-2c34bc063a5d
DOI
10.1101/2021.09.17.21263728
Open publication

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Evaluation of evidence for pathogenicity demonstrates that<i>BLK, KLF11</i>and<i>PAX4</i>should not be included in diagnostic testing for MODYDOI 10.1101/2021.09.17.21263728
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.Semantic proximity
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