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Article

ARF1-Related Diseases in China: The Initial Study of Phenotype and Molecular Profile.

Journal of cellular and molecular medicine - 1 Jul 2025

Lian Ruofei, Wu Gongao, Jin Liang, Zhao Shichao, Gan Ling, Wang Lijun, Li Mengchun, Liang Ruirui, Jia Tianming, Dong Yan

Abstract excerpt

BACKGROUND: The ADP-ribosylation factor 1 (ARF1) gene encodes a protein which plays a critical role in intra-Golgi transport. Clinical evidence suggests that individuals harbouring variants in the ARF1 gene display a consistent set of phenotypic features, including intellectual disability, microcephaly, epilepsy, and periventricular nodular heterotopia (PVNH). METHODS: This study describes the case of a 6-year...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 40689678
DOI: 10.1111/jcmm.70655
PMCID: PMC12278334

Genes

ARF1

Variants

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