Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A5
Variant:p.S513I
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SLC6A5

NM_004211.5:p.S513I

Associated Papers

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

Hyperekplexia-associated mutations in the neuronal glycine transporter 2.

López-Corcuera B et al.

Neurochemistry International, 2019

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.

Carta E et al.

The Journal of Biological Chemistry, 2012

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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."