Varaico: Literature-Extracted Genetic Variants

Gene:ARF3
Variant:p.R99L
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ARF3

NM_001659.3:p.R99L

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

Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.

Mok JW et al.

Genome Research, 2025

40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1

Neurodevelopmental disorder associated with gene ARF3: A case report.

Dos Santos Henrique S et al.

American Journal of Medical Genetics. Part A, 2024

De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.

Sakamoto M et al.

Human Molecular Genetics, 2021

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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."