Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF17
Variant:p.R1723Q
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ARHGEF17

NM_014786.4:p.R1723Q

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

Role of Rare Genetic Variants Found in Families With Intracranial Aneurysms in the General Dutch and UK Population.

Bakker MK et al.

Stroke, 2021

Genetics of Intracranial Aneurysms.

Bakker MK et al.

Stroke, 2021

Rho Guanine Nucleotide Exchange Factor ARHGEF17 Is a Risk Gene for Intracranial Aneurysms.

Yang X et al.

Circulation. Genomic and Precision Medicine, 2018

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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."