Varaico: Literature-Extracted Genetic Variants

Gene:ARFGEF1
Variant:p.I1180R
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ARFGEF1

NM_006421.5:p.I1180R

Associated Papers

An activating mutation in AGEF-1, a putative Arf GEF, causes yolk extrusion from C. elegans embryos.

FitzPatrick C et al.

Biorxiv : the Preprint Server for Biology, 2026

Expanding the Phenotypic and Genotypic Spectrum of ARFGEF1-Related Neurodevelopmental Disorder.

Xu L et al.

Frontiers in Molecular Neuroscience, 2022

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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."