Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.P4_P12insFs
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GAMT

NM_000156.6:p.P4_P12insFs

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

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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."