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 have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…

A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”

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:a97833. 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 have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Study of the ovarian function and gyneco-obstetrical profile of pat... pubmed 2026-02-20 yesterday 1.00