Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
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:4ea333.
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 (MODY-5): a rare form of diabetes with multisystemic features–two case reports
peer_reviewed
· published 2026-06-11
· live page
Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic fea... | openalex | 2026-06-11 | yesterday | 1.00 |