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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC2A1

Variant:p.E146del1

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SLC2A1

NM_006516.4:p.E146del1

hg38:chr1:42930702 ACTT>A

Associated Papers

An in vitro model of glucose transporter 1 deficiency syndrome at the blood-brain barrier using induced pluripotent stem cells.

Pervaiz I et al.

Journal of Neurochemistry, 2022

35943296 (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."