de novo variant associated_with Simons Simplex Collection

Subject: de novo variant
Relation: associated_with
Object: Simons Simplex Collection
p-value: —

Evidence from: primary | all sources

Evidence (2 sources)

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

large de novo CNVs confer substantial risk for ASD in the SSC

confidence: 0.70

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

represent the complete set of large de novo CNVs present in the SSC

confidence: 0.90