Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.R538G
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COL4A1

NM_001845.6:p.R538G

Associated Papers

Late-onset intracerebral hemorrhage associated with COL4A1 variants: clinical and genetic perspectives.

Zhuang X et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026

Genetics of intracerebral hemorrhage.

Kimball TN et al.

Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2025

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

Whittaker E et al.

Journal of the American Heart Association, 2022

New insights into mechanisms of small vessel disease stroke from genetics.

Tan R et al.

Clinical Science (london, England : 1979), 2017

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

Meuwissen ME et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

Current concepts and clinical applications of stroke genetics.

Falcone GJ et al.

The Lancet. Neurology, 2014

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.

Kuo DS et al.

Human Molecular Genetics, 2012

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

Weng YC et al.

Annals of Neurology, 2012

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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."