Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.Y134*
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GAMT

NM_000156.6:p.Y134*

Associated Papers

Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT.

Afjei SA et al.

Neurogenetics, 2023

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.

Dhar SU et al.

Molecular Genetics and Metabolism, 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."