Varaico: Literature-Extracted Genetic Variants

Gene:ARF3
Variant:p.L12V
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ARF3

NM_001659.3:p.L12V

Associated Papers

Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.

Muto V et al.

European Journal of Human Genetics : Ejhg, 2026

Neurodevelopmental disorder associated with gene ARF3: A case report.

Dos Santos Henrique S et al.

American Journal of Medical Genetics. Part A, 2024

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.

Fasano G et al.

Nature Communications, 2022

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