Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.Y547_N548del1
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SLC6A8

NM_005629.4:p.Y547_N548del1

Associated Papers

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.

DesRoches CL et al.

Gene, 2015

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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."