Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.
Generated 2026-11-13, last changed
today. Dedup key expansion:8cecda.
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)
A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B
peer_reviewed
· published 2024-01-01
· live page
Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| A Korean Family Presenting with Renal Cysts and Maturity-Onset Diab... | pmc | 2024-01-01 | yesterday | 1.00 |