Varaico: Literature-Extracted Genetic Variants

Gene:AMT
Variant:p.K294fs
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AMT

NM_000481.4:p.K294fs

Associated Papers

Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

Bravo-Alonso I et al.

Human Mutation, 2017

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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."