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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALG13

Variant:p.C686Y

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ALG13

NM_001099922.3:p.C686Y

hg38:chrX:111727412 G>A

Associated Papers

ALG13-Related Epilepsy: Current Insights and Future Research Directions.

Gao P et al.

Neurochemical Research, 2024

39673593 (PubMed )

Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.

Nagarajan B et al.

Epilepsia Open, 2023

37583270 (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."