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...
Main Authors: | Boehm, Bernhard Otto, Kratzer, Wolfgang, Bansal, Vikas |
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Other Authors: | Lee Kong Chian School of Medicine (LKCMedicine) |
Format: | Journal Article |
Language: | English |
Published: |
2023
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Subjects: | |
Online Access: | https://hdl.handle.net/10356/165636 |
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