Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.P434L
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SLC6A8

NM_005629.4:p.P434L

Associated Papers

Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome.

El-Kasaby A et al.

Neuropharmacology, 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."