Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A1
Variant:p.E48*
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SLC1A1

NM_004170.6:p.E48*

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

Recessive gene disruptions in autism spectrum disorder.

Doan RN et al.

Nature Genetics, 2019

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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."