Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF17
Variant:p.C1776Y
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ARHGEF17

NM_014786.4:p.C1776Y

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

A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates SESN2 Expression Through POU2F1.

Yang W et al.

Frontiers in Cell and Developmental Biology, 2021

34249922 (PubMed )
Supplement: Table_1.xls › D1D2D3

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

Yang X et al.

Circulation. Genomic and Precision Medicine, 2018

Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.

Farlow JL et al.

Plos One, 2015

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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."