Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A2
Variant:p.Q142fs
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SLC35A2

NM_005660.3:p.Q142fs

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

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

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