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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL4A2

Variant:p.G690V

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COL4A2

NM_001846.4:p.G690V

hg38:chr13:110467070 G>T

Associated Papers

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.

Muhammad A et al.

Clinical Genetics, 2026

41499643 (PubMed )

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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."