De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

Published April 4, 2012 in PubMed

Among a total of 279 identified de novo coding mutations, there is a single instance in probands, and none in siblings, in which two independent nonsense variants disrupt the same gene, SCN2A (sodium channel, voltage-gated, type II, ? subunit), a result that is highly unlikely by chance.

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