Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: 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 ”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in openalex.
Generated 2026-11-14, last changed
today. Dedup key expansion:122528.
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)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Molecular impact of a novel HNF1B missense variant in childhood-ons... | openalex | 2026-05-04 | yesterday | 1.00 |