17q12 Knowledge Basedeletion syndrome · static snapshot
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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 yesterday. Dedup key expansion:750b73. 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)

We reported for the first time three patients with cardiac and great artery malformations.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12... pmc 2024-01-01 yesterday 1.00