Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.S304P
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SLC35A2

NM_005660.3:p.S304P

Associated Papers

SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamics.

Lai D et al.

Brain : a Journal of Neurology, 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

SLC35A2 loss of function variants affect glycomic signatures, neuronal fate, and network dynamics.

Lai D et al.

Biorxiv : the Preprint Server for Biology, 2024

Neuropathology and epilepsy surgery - 2024 update.

Blümcke I

Free Neuropathology, 2024

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

CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

Mayo S et al.

International Journal of Molecular Sciences, 2022

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

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.

Winawer MR et al.

Annals of Neurology, 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."