Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A4
Variant:p.G374R
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SLC1A4

NM_003038.5:p.G374R

Associated Papers

Genetic etiology of progressive pediatric neurological disorders.

Aaltio J et al.

Pediatric Research, 2024

Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.

Pujol-Giménez J et al.

Annals of Clinical and Translational Neurology, 2023

A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation.

Sarigecili E et al.

Clinical Neurology and Neurosurgery, 2022

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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."