Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.S76L
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GAMT

NM_000156.6:p.S76L

Associated Papers

Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder.

Cameron JM et al.

International Journal of Molecular Sciences, 2017

A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.

Mercimek-Mahmutoglu S et al.

Gene, 2016

Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.

Desroches CL et al.

Molecular Genetics and Genomics : Mgg, 2015

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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."