17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion Research frontier 1 supporting source confidence 97% novelty 90%

New observation reported: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…

A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”

More phenotype expansion

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:27419f. 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)

Overdosage of HNF1B Gene Associated With Annular Pancreas Detected in Neonate Patients With 17q12 Duplication. peer_reviewed · published 2021-01-01 · live page
In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Overdosage of HNF1B Gene Associated With Annular Pancreas Detected ... pubmed 2021-01-01 yesterday 1.00