Phenotype expansion
learning, speech and behaviour
1 supporting source
confidence 97%
novelty 90%
New observation reported: A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and au…
A source describes a new or expanded observation: “A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.”
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:4c5415.
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)
ESC models of autism with copy-number variations reveal cell-type-specific translational vulnerability
peer_reviewed
· published 2025-01-01
· live page
A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| ESC models of autism with copy-number variations reveal cell-type-s... | pmc | 2025-01-01 | yesterday | 1.00 |