17q12, explained for kidsdeletion syndrome · static snapshot
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Something new reported Kidneys and diabetes 1 supporting source confidence 97% novelty 90%

Someone reported something new: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…

A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5) is a rare autosomal-dominant monogenic diabetes caused by functional loss of the transcription factor, hepatocyte nuclear factor-1 beta ”

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How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in openalex.

Generated 2026-11-13, last changed today. Dedup key expansion:b223e5. 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)

Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study peer_reviewed · published 2026-05-04 · live page
Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5) is a rare autosomal-dominant monogenic diabetes caused by functional loss of the transcription factor, hepatocyte nuclear factor-1 beta (HNF1B).

Supporting documents (1)

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Molecular impact of a novel HNF1B missense variant in childhood-ons... openalex 2026-05-04 yesterday 1.00