Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.G528E
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COL4A1

NM_001845.6:p.G528E

Associated Papers

Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.

Uemura M et al.

Neurology International, 2024

Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.

Whittaker E et al.

Journal of the American Heart Association, 2022

Beyond the Brain: Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease.

Rannikmäe K et al.

Stroke, 2020

32842921 (PubMed )
Supplement: str_stroke-2020-029517_supp1.pdf

COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.

Weng YC et al.

Annals of Neurology, 2012

Stroke-related translational research.

Caplan LR et al.

Archives of Neurology, 2011

Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.

Plaisier E et al.

American Journal of Medical Genetics. Part A, 2010

Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.

Alamowitch S et al.

Neurology, 2009

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

Plaisier E et al.

The New England Journal of Medicine, 2007

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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."