Phenotype expansion
learning, speech and behaviour
1 supporting source
confidence 97%
novelty 90%
New observation reported: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a critical gene for this region.”
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:74be8a.
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
Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a critical gene for this region.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Identification of novel driver risk genes in CNV loci associated wi... | pmc | 2024-01-01 | yesterday | 0.45 |