Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.G130R
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SLC2A1

NM_006516.4:p.G130R

Associated Papers

Dissecting the causal polymorphism of the Lr67res multipathogen resistance gene.

Milne RJ et al.

Journal of Experimental Botany, 2024

Exome sequencing in paediatric patients with movement disorders.

Kwong AK et al.

Orphanet Journal of Rare Diseases, 2021

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

CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.

Barca E et al.

Jimd Reports, 2016

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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."