Article

Truncating Variant Burden in High Functioning Autism and Pleiotropic Effects of <i>LRP1</i> Across Psychiatric Phenotypes

2018-09-28

Abstract excerpt

Previous research has implicated de novo (DN) and inherited truncating mutations in autism spectrum disorder (ASD). We aim to investigate whether the load of inherited truncating mutations contribute similarly to high functioning autism (HFA), and to characterise genes harbouring DN variants in HFA. We performed whole-exome sequencing (WES) in 20 HFA families (average IQ = 100). No difference was observed in the...

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Literature Corpus work: 2fb26648-6818-5e09-86ab-26a481ae0455
DOI: 10.1101/429779

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