Varaico: Literature-Extracted Genetic Variants

Gene:COL4A2
Variant:p.G1380D
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COL4A2

NM_001846.4:p.G1380D

Associated Papers

Col4a2 Mutations Contribute to Infantile Epileptic Spasm Syndrome and Neuroinflammation.

Hu C et al.

International Journal of Medical Sciences, 2024

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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."