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: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…

A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”

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 yesterday. Dedup key expansion:1bbe2c. 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
Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.

Supporting documents (1)

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