17q12, explained for kidsdeletion syndrome · static snapshot
Adults Scientists Kids EN NL
Everything here was found on the internet and put together with help from a computer program that reads and writes (AI). It is here so you can learn — it is not the final word. Always check the real source. Read the whole notice
A new article Genes and families 1 supporting source confidence 97% novelty 75%

ESC models of autism with copy-number variations reveal cell-type-specific translational vulnerability

Human genetics has identified numerous copy-number variations (CNVs) associated with autism spectrum disorders (ASDs). However, the lack of standardized biological resources impedes understanding of the cell-type-specific common features of ASD.

More a new article

How this was derived

Indexed from **pmc** on 2026-11-13 (relevance 1.00, tier peer_reviewed).

Generated 2026-11-13, last changed yesterday. Dedup key newdoc:365. 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
These translational abnormalities, especially in both glutamatergic and GABAergic neurons with decreased Upf3b levels in the mTOR pathway, may implicate the novel pathogenic mechanism of ASD.

Supporting documents (1)

StorySourcePublishedSeenRelevance
ESC models of autism with copy-number variations reveal cell-type-s... pmc 2025-01-01 yesterday 1.00