Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF17
Variant:p.R542W
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ARHGEF17

NM_014786.4:p.R542W

Associated Papers

Case report: Expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease.

Ravindran E et al.

Frontiers in Neurology, 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."