Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.N34D
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SLC2A1

NM_006516.4:p.N34D

Associated Papers

Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study.

Hu J et al.

Bmc Medical Genomics, 2025

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2

Phenotypic and Genetic Complexity in Pediatric Movement Disorders.

Kim MJ et al.

Frontiers in Genetics, 2022

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Seo GH et al.

Clinical Genetics, 2020

32901917 (PubMed )
Supplement: CGE-98-562-s003.xlsx › Supplementary_2

Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.

Daci A et al.

International Journal of Molecular Sciences, 2018

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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."