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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC31A1

Variant:p.R102H

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SLC31A1

NM_001859.4:p.R102H

hg38:chr9:113258796 G>A

Associated Papers

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

Juliá-Palacios N et al.

Brain Communications, 2025

41040850 (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."