Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A7
Variant:p.P509fs
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SLC5A7

NM_021815.5:p.P509fs

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

Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales.

Hamanaka K et al.

Clinical 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."