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

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

Abstract 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 Participant...

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Bibliographic Details
Main Authors: Liana K. Billings, Zhuqing Shi, W. Kyle Resurreccion, Chi‐Hsiung Wang, Jun Wei, Toni I. Pollin, Miriam S. Udler, Jianfeng Xu
Format: Article
Language:English
Published: Wiley 2022-11-01
Series:Endocrinology, Diabetes & Metabolism
Subjects:
diabetes genetics
maturity‐onset diabetes of the young
MODY
pathogenic variant
variant curation
Online Access:https://doi.org/10.1002/edm2.372

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