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

New observation reported: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…

A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”

More phenotype expansion

How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.

Generated 2026-11-14, last changed today. Dedup key expansion:5f1014. 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)

Choledochal Cyst with 17q12 Chromosomal Duplication. peer_reviewed · published 2018-01-01 · live page
We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
Choledochal Cyst with 17q12 Chromosomal Duplication. pubmed 2018-01-01 yesterday 1.00