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Article

Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach.

Molecular autism - 3 Apr 2024

Rao Sadhna, Sadybekov Anastasiia, DeWitt David C, Lipka Joanna, Katritch Vsevolod, Herring Bruce E

Abstract excerpt

BACKGROUND: Glutamatergic synapse dysfunction is believed to underlie the development of Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) in many individuals. However, identification of genetic markers that contribute to synaptic dysfunction in these individuals is notoriously difficult. Based on genomic analysis, structural modeling, and functional data, we recently established the involvement of...

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Identifiers

PMID: 38566250
DOI: 10.1186/s13229-024-00590-9
PMCID: PMC10988830

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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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