Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A1
Variant:p.I395del1
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SLC1A1

NM_004170.6:p.I395del1

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

Rare SLC1A1 variants in hot water epilepsy.

Karan KR et al.

Human Genetics, 2017

Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria.

Bailey CG et al.

The Journal of Clinical Investigation, 2011

The SLC1 high-affinity glutamate and neutral amino acid transporter family.

Kanai Y et al.

Molecular Aspects of Medicine, 0

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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."