17q12, explained for kidsdeletion syndrome · static snapshot
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Something new reported What scientists are working on 1 supporting source confidence 97% novelty 90%

Someone reported something new: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…

A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”

More something new reported

How this was derived

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

Generated 2026-11-13, last changed yesterday. Dedup key expansion:152173. 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)

MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene. peer_reviewed · published 2017-09-01 · live page
The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.

Supporting documents (1)

StorySourcePublishedSeenRelevance
MODY3, renal cysts, and Dandy-Walker variants with a microdeletion ... pubmed 2017-09-01 yesterday 1.00