Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.S324S
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SLC2A1

NM_006516.4:p.S324S

Associated Papers

Genetic and Clinical Features of SLC2A1-Related Paroxysmal Exercise-Induced Dyskinesia.

Xu JJ et al.

Pediatric Neurology, 2025

WT1, NR0B1, NR5A1, LHX9, ZFP92, ZNF275, INSL3, and NRIP1 Genetic Variants in Patients with Premature Ovarian Insufficiency in a Mexican Cohort.

Ramos L

Genes, 2022

Varied phenotypic spectrum presenting of paroxysmal exercise-induced dyskinesia: a Turkish family with SLC2A1 mutation.

Gultekin M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

Severe familial paroxysmal exercise-induced dyskinesia.

Tacik P et al.

Journal of Neurology, 2014

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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."