Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.G489Splc
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COL4A1

NM_001845.6:p.G489Splc

Associated Papers

Fusiform dilatation of the ascending aorta and outpouching of the left A2 anterior cerebral artery segment in COL4A1 -related disorder.

Olarewaju BA et al.

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

Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.

Badenas C et al.

Journal of the American Society of Nephrology : Jasn, 2002

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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."