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Article

Characterization of De Novo Promoter Variants in Autism Spectrum Disorder with Massively Parallel Reporter Assays.

International journal of molecular sciences - 9 Feb 2023

Koesterich Justin, An Joon-Yong, Inoue Fumitaka, Sohota Ajuni, Ahituv Nadav, Sanders Stephan J, Kreimer Anat

Abstract excerpt

Autism spectrum disorder (ASD) is a common, complex, and highly heritable condition with contributions from both common and rare genetic variations. While disruptive, rare variants in protein-coding regions clearly contribute to symptoms, the role of rare non-coding remains unclear. Variants in these regions, including promoters, can alter downstream RNA and protein quantity; however, the functional impacts of...

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Identifiers

PMID: 36834916
DOI: 10.3390/ijms24043509
PMCID: PMC9959321

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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