Phenotype expansion
Signs & symptoms
1 supporting source
confidence 97%
novelty 90%
New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
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:23064c.
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)
In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12 Genomic Disorder
peer_reviewed
· published 2024-01-01
· live page
We reported for the first time three patients with cardiac and great artery malformations.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12... | pmc | 2024-01-01 | yesterday | 1.00 |