17q12 Knowledge Basedeletion syndrome · static snapshot
All content was collected from public internet sources and processed with the help of AI/LLM software. This site is informative only — do not draw conclusions; verify with the original sources. Full disclaimer
Phenotype expansion kidney and urinary tract 1 supporting source confidence 97% novelty 90%

New observation reported: Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-…

A source describes a new or expanded observation: “Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).”

How this was derived

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

Generated 2026-11-13, last changed yesterday. Dedup key expansion:e51c50. 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)

Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
Hepatocyte nuclear factor 1 in renal lipid metabolism: molecular me... pmc 2025-01-01 yesterday 1.00