Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.M461I
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SLC6A8

NM_005629.4:p.M461I

Associated Papers

Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF.

Haas D et al.

Gene, 2014

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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."