Varaico: Literature-Extracted Genetic Variants

Gene:SLC44A1
Variant:p.K90fs
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SLC44A1

NM_080546.5:p.K90fs

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

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.

Fagerberg CR et al.

Brain : a Journal of Neurology, 2020

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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."