de novo variant associated_with SSC

Subject: de novo variant
Relation: associated_with
Object: SSC
p-value: —

Evidence from: primary | all sources

Evidence (2 sources)

De Novo Coding Variants Are Strongly Associated with Tourette Disorder. (2017) PMID:28472652 cited

upper CI of the number of de novo damaging variants per child in the SSC (0.3443 variants per child)

confidence: 0.94

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

67 de novo CNVs identified in SSC probands

confidence: 0.97