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Article

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

Endocrinology, diabetes & metabolism - 1 Nov 2022

Billings Liana K, Shi Zhuqing, Resurreccion W Kyle, Wang Chi-Hsiung, Wei Jun, Pollin Toni I, Udler Miriam S, Xu Jianfeng

Abstract excerpt

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 sequencing data, including 14,622 with and 185,509 without diagnosis of...

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PMID: 36208030
DOI: 10.1002/edm2.372
PMCID: PMC9659663

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