Article

Genetic variants in<i>DDX53</i>contribute to Autism Spectrum Disorder associated with the Xp22.11 locus

2023-12-27

Abstract excerpt

<h4>Summary</h4> Autism Spectrum Disorder (ASD) exhibits an ∼4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has been associated with ASD in males. This locus includes the three-exon PTCHD1 gene, an adjacent multi-isoform long noncoding RNA (lncRNA) named PTCHD1-AS (spanning ∼...

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Literature Corpus work: 6cbd43ac-65b0-54dd-a845-fbe8553859d8
DOI: 10.1101/2023.12.21.23300383

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