Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.W251*
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SLC35A2

NM_005660.3:p.W251*

Associated Papers

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

Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing Program.

Balci TB et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2025

Somatic variants in SLC35A2 leading to defects in N-glycosylation in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).

Liu X et al.

Acta Neuropathologica, 2025

Indispensability of transmembrane domains of Golgi UDP-galactose transporter as revealed by analysis of genetic defects in UDP-galactose transporter-deficient murine had-1 mutant cell lines and construction of deletion mutants.

Ishida N et al.

Journal of Biochemistry, 1999

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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."