Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.G688D
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COL4A1

NM_001845.6:p.G688D

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

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

Uemura M et al.

Neurology International, 2024

38392956 (PubMed )
Supplement: neurolint-16-00015-s001.zip › neurolint-2790730-supplementary.pdf

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 mutation revealed by an isolated brain hemorrhage.

Corlobe A et al.

Cerebrovascular Diseases (basel, Switzerland), 2013

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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."