Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: Another novel finding among our patients is the coexistence of both types of HNF1B- associated kidney abnormal…
A source describes a new or expanded observation: “Another novel finding among our patients is the coexistence of both types of HNF1B- associated kidney abnormalities, i.e., cystic kidneys and CAKUT, which presented sequentially in Patient 3.”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.
Generated 2026-11-13, last changed
yesterday. Dedup key expansion:b1467b.
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 variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia.
peer_reviewed
· published 2023-02-09
· live page
Another novel finding among our patients is the coexistence of both types of HNF1B- associated kidney abnormalities, i.e., cystic kidneys and CAKUT, which presented sequentially in Patient 3.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| HNF1B variant without hyperglycaemia as a cause of isolated profoun... | pubmed | 2023-02-09 | yesterday | 1.00 |