Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.Q129*
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SLC35A2

NM_005660.3:p.Q129*

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

Genetic testing in children enrolled in epilepsy surgery program. A real-life study.

Straka B et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 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

Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).

Bonduelle T et al.

Acta Neuropathologica Communications, 2021

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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."