Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.E176delFs
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GAMT

NM_000156.6:p.E176delFs

Associated Papers

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Khaikin Y et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018

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."