Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.T146T
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GAMT

NM_000156.6:p.T146T

Associated Papers

Characterization of seven novel mutations in seven patients with GAMT deficiency.

Item CB et al.

Human Mutation, 2004

Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency.

Item CB et al.

Molecular Genetics and Metabolism, 0

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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."