Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A7
Variant:p.K510fs
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SLC5A7

NM_021815.5:p.K510fs

Associated Papers

Structural mechanisms of human sodium-coupled high-affinity choline transporter CHT1.

Xue J et al.

Cell Discovery, 2024

39587078 (PubMed )
Supplement: 41421_2024_731_MOESM1_ESM.pdf

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

Relevance of solute carrier family 5 transporter defects to inherited and acquired human disease.

Cannizzaro M et al.

Journal of Applied Genetics, 2019

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.

Salter CG et al.

Neurology. Genetics, 2018

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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."