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-  2018 

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

DOI: https://doi.org/10.1038/s41436-018-0380-2

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Abstract:

To maximize the discovery of potentially pathogenic variants to better understand the diagnostic utility of genome sequencing (GS) and to assess how the presence of multiple risk events might affect the phenotypic severity in autism spectrum disorders (ASD)

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