Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.L124R
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SLC2A1

NM_006516.4:p.L124R

Associated Papers

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

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_motif

Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants.

Pascual JM et al.

The Journal of Biological Chemistry, 2008

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