Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.
Generated 2026-11-13, last changed
today. Dedup key expansion:352940.
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)
Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease.
peer_reviewed
· published 2024-01-01
· live page
3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominan... | pubmed | 2024-01-01 | yesterday | 1.00 |