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Supplementary Material for: Digenic HNF1A and ABCC8 Variants Provide Mechanistic Insight into Early-Onset Diabetes

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NIAID Data Ecosystem2026-05-10 收录
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https://figshare.com/articles/dataset/Supplementary_Material_for_Digenic_HNF1A_and_ABCC8_Variants_Provide_Mechanistic_Insight_into_Early-Onset_Diabetes/31956789
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This dataset contains supplementary materials (Figures S1–S3 and Table S1) associated with a study of a family with early-onset diabetes caused by digenic variants in HNF1A and ABCC8. Figure S1 presents the pedigree of the affected family. Figure S2 provides structural and sequence-based mapping of HNF1A and HNF1B variants, including domain organization and conservation analysis. Figure S3 shows structural analysis of ABCC8 (SUR1) variants (R298C and R521Q) based on cryo-EM structures and protein contact analysis. Table S1 summarizes the clinical characteristics of affected family members, including age at onset, metabolic parameters, treatment history, and genetic findings. Together, these data support the functional interpretation of candidate variants and the identification of a digenic mechanism contributing to early-onset diabetes.
创建时间:
2026-04-08
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