Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.E176fs
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GAMT

NM_000156.6:p.E176fs

Associated Papers

Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency.

Lee A et al.

Jimd Reports, 2025

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.

Yıldız Y et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024

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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."