Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.G282R
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SLC35A2

NM_005660.3:p.G282R

Associated Papers

Mosaic expression of SLC35A2 pathogenetic variants impairs neuronal migration and dendritogenesis in the developing cortex.

Falace A et al.

Human Molecular Genetics, 2025

SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights.

Risso B et al.

International Journal of Molecular Sciences, 2025

41373710 (PubMed )
Supplement: ijms-26-11560-s001.zip › ijms-4001327-supplementary.xlsx › Foglio1

Neuropathology and epilepsy surgery - 2024 update.

Blümcke I

Free Neuropathology, 2024

D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery.

Aledo-Serrano Á et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2023

An integrated genetic analysis of epileptogenic brain malformed lesions.

Fujita A et al.

Acta Neuropathologica Communications, 2023

Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.

Barba C et al.

Neurology, 2023

Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.

Duan J et al.

Brain : a Journal of Neurology, 2022

35231114 (PubMed )
Supplement: awac053_supplementary_data.zip › brain-2021-02368-File005.pdf

SLC35A2-CDG: Novel variant and review.

Quelhas D et al.

Molecular Genetics and Metabolism Reports, 2021

Functional analyses of the UDP-galactose transporter SLC35A2 using the binding of bacterial Shiga toxins as a novel activity assay.

Li D et al.

Glycobiology, 2019

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.

Hino-Fukuyo N et al.

Human Genetics, 2015

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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."