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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL4A2

Variant:p.G1043D

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COL4A2

NM_001846.4:p.G1043D

hg38:chr13:110485757 G>A

Associated Papers

Phenotype and surgical management of drug-resistant epilepsy in patients with COL4A1 and COL4A2 variants.

Shi J et al.

Epilepsia Open, 2025

40055992 (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."