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Article

A Protective Super-Enhancer Variant Regulating SLC7A7 Modulates Autism Spectrum Disorder Risk: A Cross-Population Study.

Autism research : official journal of the International Society for Autism Research - 1 Apr 2026

Zhang Jiao, Hou Fang, Chen Yanlin, Chen Qianhui, Xiang Zhen, Wang Tianchun, Liang Xi, Li Li, Song Ranran

Abstract excerpt

Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental condition with a rising global prevalence. However, the functional role of super-enhancers, the key genomic regulatory elements, remains largely uncharacterized in ASD. This study aims to identify functional single-nucleotide polymorphisms (SNPs) within super-enhancers that regulate ASD-associated genes and to validate their contribution to...

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Source

Identifiers

PMID: 41693594
DOI: 10.1002/aur.70201

Genes

SLC7A7
PGC
TBX5
ZEB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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