Varaico: Literature-Extracted Genetic Variants

Gene:ARF3
Variant:p.N126D
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ARF3

NM_001659.3:p.N126D

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

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

Fasano G et al.

Nature Communications, 2022

36369169 (PubMed )
Supplement: 41467_2022_34354_MOESM2_ESM.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."