Article

A recurrent<i>SHANK3</i>frameshift variant in Autism Spectrum Disorder

2021-05-05

Abstract excerpt

Autism Spectrum Disorder (ASD) is genetically complex, but specific copy number variants (CNVs; e.g., 1q21.1, 16p11.2) and genes (e.g., NRXN1, NLGN4 ) have been identified as penetrant susceptibility factors, and all of these demonstrate pleiotropy. Many ASD-associated CNVs are, in fact, genomic disorder loci where flanking segmental duplications lead to recurrent deletion and duplication events of the same region...

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Literature Corpus work: b2bae468-0a35-5185-bc27-45c3b931b2bb
DOI: 10.1101/2021.05.01.21256144

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