17q12, explained for kidsdeletion syndrome · static snapshot
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Something new reported Kidneys and diabetes 1 supporting source confidence 97% novelty 90%

Someone reported something new: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…

A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with non-diabetic nephropathy [ 3 ].”

More something new reported

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:b0084c. 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 Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B peer_reviewed · published 2024-01-01 · live page
Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with non-diabetic nephropathy [ 3 ].

Supporting documents (1)

StorySourcePublishedSeenRelevance
A Korean Family Presenting with Renal Cysts and Maturity-Onset Diab... pmc 2024-01-01 yesterday 1.00