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: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…

A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.”

How this was derived

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

Generated 2026-11-13, last changed today. Dedup key expansion:0ba79a. 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)

Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.

Supporting documents (1)

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