Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A3
Variant:p.V393I
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SLC1A3

NM_004172.5:p.V393I

Associated Papers

Ataxia-linked SLC1A3 mutations alter EAAT1 chloride channel activity and glial regulation of CNS function.

Wu Q et al.

The Journal of Clinical Investigation, 2022

Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.

Bhat S et al.

Pharmacology & Therapeutics, 2021

Cellular Physiology and Pathophysiology of EAAT Anion Channels.

Kovermann P et al.

Frontiers in Cellular Neuroscience, 2021

Functional consequences of SLC1A3 mutations associated with episodic ataxia 6.

Chivukula AS et al.

Human Mutation, 2020

Excitatory Amino Acid Transporters in Physiology and Disorders of the Central Nervous System.

Malik AR et al.

International Journal of Molecular Sciences, 2019

A novel mutation in SLC1A3 causes episodic ataxia.

Iwama K et al.

Journal of Human Genetics, 2018

Genetic Variants Associated with Episodic Ataxia in Korea.

Choi KD et al.

Scientific Reports, 2017

Late-onset episodic ataxia associated with SLC1A3 mutation.

Choi KD et al.

Journal of Human Genetics, 2017

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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."