Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.T167I
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GAMT

NM_000156.6:p.T167I

Associated Papers

Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.

Desroches CL et al.

Molecular Genetics and Genomics : Mgg, 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."