17q12 Knowledge Basedeletion syndrome · static snapshot
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HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation

HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation Interpreting HNF1B variants is challenging in clinical practice.

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How this was derived

Indexed from **openalex** on 2026-11-13 (relevance 1.00, tier peer_reviewed).

Generated 2026-11-13, last changed yesterday. Dedup key newdoc:520. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation peer_reviewed · published 2026-06-03 · live page
We identified 28 individuals with 17q12del (21 in NMR, seven in NCDR) and 15 individuals carrying 14 unique pathogenic/likely pathogenic (P/LP) sequence variants, all detected in the NMR.

Supporting documents (1)

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HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childho... openalex 2026-06-03 yesterday 1.00