Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.M344T
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SLC2A1

NM_006516.4:p.M344T

Associated Papers

Structural Organization of the Retriever-CCC Endosomal Recycling Complex.

Boesch DJ et al.

Biorxiv : the Preprint Server for Biology, 2023

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1

Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.

Ito Y et al.

Brain & Development, 2015

SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome.

Hashimoto N et al.

Journal of Human Genetics, 2011

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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."