Varaico: Literature-Extracted Genetic Variants

Gene:AMT
Variant:p.G46S
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AMT

NM_000481.4:p.G46S

Associated Papers

A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.

Coovadia A et al.

Plos One, 2023

38032981 (PubMed )
Supplement: pone.0295010.s001.doc

Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease.

Farris J et al.

Plos Genetics, 2021

33524012 (PubMed )
Supplement: pgen.1009307.s004.xlsx › Sheet1

Vanishing white matter disease in a spanish population.

Turón-Viñas E et al.

Journal of Central Nervous System Disease, 2014

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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."