17q12 Knowledge Basedeletion syndrome · static snapshot
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New publication kidney and urinary tract 1 supporting source confidence 97% novelty 75%

Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study

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).

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:524. 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 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)

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