Varaico: Literature-Extracted Genetic Variants

Gene:ARF1
Variant:p.D67V
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ARF1

NM_001658.4:p.D67V

Associated Papers

A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1.

Ishida M et al.

Human Molecular Genetics, 2023

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_MOESM1_ESM.pdf

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."