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Article

Rare Variants in Purinergic P2X Receptor Genes (P2RX4, P2RX5, P2RX7) in Individuals With Autism Spectrum Disorder: An Exploratory Study.

Human mutation - 1 Jan 2026

Ünsel-Bolat Gül, Bolat Hilmi

Abstract excerpt

Background: Purinergic P2X receptors (P2RX) play key roles in neuroinflammatory processes through ATP-gated ion channel signaling. Dysregulation of P2RX receptor activity has been implicated in maternal immune activation, mitochondrial dysfunction, oxidative stress, and synaptic abnormalities associated with autism spectrum disorder (ASD). Despite increasing mechanistic evidence, the contribution of P2RX gene...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42471841
DOI: 10.1155/humu/5522396
PMCID: PMC13379949

Genes

P2RX7
P2RX4
P2RX5
P2RX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Rare Variants in Purinergic P2X Receptor Genes (P2RX4, P2RX5, P2RX7) in Individuals With Autism Spectrum Disorder: An Exploratory Study.PMID 42471841Read ↗

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