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

Someone reported something new: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…

A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions, both novel and previously reported, were significantly enriched for dosage-sensitive genes previously associated with risk for ASD and”

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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:266c7e. 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)

Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders peer_reviewed · published 2024-01-01 · live page
Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions, both novel and previously reported, were significantly enriched for dosage-sensitive genes previously associated with risk for ASD and NDDs.

Supporting documents (1)

StorySourcePublishedSeenRelevance
Identification of novel driver risk genes in CNV loci associated wi... pmc 2024-01-01 yesterday 0.45