Article

Unpacking The Autism Spectrum Disorder Profile of Children With De Novo Disruptive GRIN2B Variants: A Quantitative and Qualitative Analysis

2020-09-18

Abstract excerpt

<title>Abstract</title> <p><bold><underline>Background</underline></bold><underline>:</underline> Disruptive mutations to <italic>GRIN2B</italic> are considered a high-confidence genetic factor of autism spectrum disorder (ASD), yet only ~25% of patients with <italic>GRIN2B</italic> mutations are given a formal ASD diagnosis. Here, we generate a comprehensive understanding of the ASD profile in children with <ita...

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Literature Corpus work: 4fad56ec-3547-525f-bec3-118b79a7d9fc
DOI: 10.21203/rs.3.rs-76658/v1

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