copy number variant associated_with simplex families

Subject: copy number variant
Relation: associated_with
Object: simplex families
p-value: —

Evidence from: primary | all sources

Evidence (1 sources)

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011) PMID:21658581 cited

"more frequent in ASD probands from families with only a single affected child (i.e. simplex families) than in controls"

confidence: 0.90