Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located on chromosome 17q12, plays a critical role in the embryonic development of the kidneys, pancreas, liver, and genital tract.”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in openalex.
Generated 2026-11-13, last changed
today. Dedup key expansion:6050e3.
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)
A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy
peer_reviewed
· published 2025-11-30
· live page
A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located on chromosome 17q12, plays a critical role in the embryonic development of the kidneys, pancreas, liver, and genital tract.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and ... | openalex | 2025-11-30 | yesterday | 1.00 |