Phenotype expansion
Research frontier
1 supporting source
confidence 97%
novelty 90%
New observation reported: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and compare them to patients with negative results searching for the most discriminative features.”
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:101f91.
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
1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and compare them to patients with negative results searching for the most discriminative features.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominan... | pubmed | 2024-01-01 | yesterday | 1.00 |