Phenotype expansion
Research frontier
1 supporting source
confidence 97%
novelty 90%
New observation reported: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
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:66bc2a.
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)
MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene.
peer_reviewed
· published 2017-09-01
· live page
The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| MODY3, renal cysts, and Dandy-Walker variants with a microdeletion ... | pubmed | 2017-09-01 | yesterday | 1.00 |