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Article

Genotype and phenotype correlation of PHACTR1-related neurological disorders.

Journal of medical genetics - 21 May 2024

Xu Zhao, Sadleir Lynette, Goel Himanshu, Jiao Xianru, Niu Yue, Zhou Zongpu, de Valles-Ibáñez Guillem, Poke Gemma, Hildebrand Michael, Lieffering Nico, Qin Jiong, Yang Zhixian

Abstract excerpt

BACKGROUND: PHACTR1 (phosphatase and actin regulators) plays a key role in cortical migration and synaptic activity by binding and regulating G-actin and PPP1CA. This study aimed to expand the genotype and phenotype of patients with de novo variants in PHACTR1 and analyse the impact of variants on protein-protein interaction. METHODS: We identified seven patients with PHACTR1 variants by trio-based whole-exome...

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Source

Identifiers

PMID: 38272663
DOI: 10.1136/jmg-2023-109638

Genes

PHACTR1
PPP1CA

Provenance

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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