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: We identified a total of 56 distinct protein-truncating URVs in GATOR1 ( Supplementary Data 5 ), among which 4…

A source describes a new or expanded observation: “We identified a total of 56 distinct protein-truncating URVs in GATOR1 ( Supplementary Data 5 ), among which 45 appeared novel according to the most recent study of epilepsy-related GATOR1 variants by Baldassari et al.”

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:40e356. 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)

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes peer_reviewed · published 2024-01-01 · live page
We identified a total of 56 distinct protein-truncating URVs in GATOR1 ( Supplementary Data 5 ), among which 45 appeared novel according to the most recent study of epilepsy-related GATOR1 variants by Baldassari et al.

Supporting documents (1)

StorySourcePublishedSeenRelevance
Exome sequencing of 20,979 individuals with epilepsy reveals shared... pmc 2024-01-01 yesterday 1.00