Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.W48*
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SLC2A1

NM_006516.4:p.W48*

Associated Papers

Dissecting the causal polymorphism of the Lr67res multipathogen resistance gene.

Milne RJ et al.

Journal of Experimental Botany, 2024

Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.

Castellotti B et al.

Journal of Neurology, 2019

The face of Glut1-DS patients: A 3D Craniofacial Morphometric Analysis.

Pucciarelli V et al.

Clinical Anatomy (new York, N.y.), 2017

From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

Hully M et al.

European Journal of Medical Genetics, 2015

Glucose transporter type 1 deficiency: ketogenic diet in three patients with atypical phenotype.

Veggiotti P et al.

Brain & Development, 2010

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Leen WG et al.

Brain : a Journal of Neurology, 2010

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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."