Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene

Pathogenic variants in more than 14 genes have been implicated in monogenic diabetes; however, a significant fraction of individuals with young-onset diabetes and a strong family history of diabetes have unknown genetic etiology. To identify novel pathogenic alleles for monogenic diabetes, we perfor...

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Main Authors: Boehm, Bernhard Otto, Kratzer, Wolfgang, Bansal, Vikas
其他作者: Lee Kong Chian School of Medicine (LKCMedicine)
格式: Article
語言:English
出版: 2023
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在線閱讀:https://hdl.handle.net/10356/165636
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機構: Nanyang Technological University
語言: English