Genotype-Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results.

The authors analyzed de novo variants and observed a highly significant 3.5-fold enrichment of de novo protein truncating variants (PTVs), which are considered the most pathogenic variants, compared to a non-significant 1.2-fold enrichment of inherited protein truncating variants.

also in 132,142 other papers