17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion kidney and urinary tract 1 supporting source confidence 97% novelty 90%

New observation reported: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…

A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”

How this was derived

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

Generated 2026-11-13, last changed today. Dedup key expansion:d0462b. 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 novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Precision treatment of beta-cell monogenic diabetes: a systematic review pmc 2024-01-01 yesterday 1.00