Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the genetic cause of polycystic kidney disease detected in the proband during the fetal period and progressively worsening, thereby providing a ”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.
Generated 2026-11-13, last changed
yesterday. Dedup key expansion:eb4bd0.
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 (2 quotes)
A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome.
peer_reviewed
· published 2026-02-17
· live page
A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome.
A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome
peer_reviewed
· published 2026-02-17
· live page
A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the genetic cause of polycystic kidney disease detected in the proband during the fetal period and progressively worsening, thereby providing a reference for research on pediatric polycystic kidney disease.
Supporting documents (2)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| A novel inversion at 17q12 disrupting HNF1B gene in a patient with ... | openalex | 2026-02-17 | yesterday | 1.00 |
| A novel inversion at 17q12 disrupting HNF1B gene in a patient with ... | pubmed | 2026-02-17 | yesterday | 1.00 |