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

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...

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Detalles Bibliográficos
Autores principales: Billings, Liana K., Shi, Zhuqing, Resurreccion, W. Kyle, Wang, Chi‐Hsiung, Wei, Jun, Pollin, Toni I., Udler, Miriam S., Xu, Jianfeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9659663/
https://www.ncbi.nlm.nih.gov/pubmed/36208030
http://dx.doi.org/10.1002/edm2.372