Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.I92V
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SLC6A8

NM_005629.4:p.I92V

Associated Papers

Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.

Engelke UF et al.

Nmr in Biomedicine, 2009

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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."