Article

Postzygotic and germinal <i>de novo</i> mutations in ASD: exploring their biological role

2020-05-22

Abstract excerpt

<h4>ABSTRACT</h4> De novo mutations (DNMs), including germinal and postzygotic mutations (PZMs), are a strong source of causality for Autism Spectrum Disorder (ASD). However, the biological processes involved behind them remain unexplored. Our aim was to detect DNMs (germinal and PZMs) in a Spanish ASD cohort (360 trios) and to explore their role across different biological hierarchies (gene, biological pathway,...

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Literature Corpus work: e2d4fa8a-7f35-553f-8fb6-62f6fed2ff78
DOI: 10.1101/2020.05.21.107987

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