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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC6A5

Variant:p.Y705S

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SLC6A5

NM_004211.5:p.Y705S

hg38:chr11:20652332 A>C

Associated Papers

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.

Giménez C et al.

The Journal of Biological Chemistry, 2012

22753417 (PubMed )

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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."