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 describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …

A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”

More something new reported

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:1e8f57. 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
Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.

Supporting documents (1)

StorySourcePublishedSeenRelevance
A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and ... openalex 2025-11-30 yesterday 1.00