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: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…

A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and compare them to patients with negative results searching for the most discriminative features.”

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:b24f22. 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)

Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease. peer_reviewed · published 2024-01-01 · live page
1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and compare them to patients with negative results searching for the most discriminative features.

Supporting documents (1)

StorySourcePublishedSeenRelevance
Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominan... pubmed 2024-01-01 yesterday 1.00