Varaico: Literature-Extracted Genetic Variants

Gene:GLS
Variant:p.R53Q
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GLS

NM_014905.5:p.R53Q

Associated Papers

Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population.

Li X et al.

Frontiers in Genetics, 2021

Crystal structures capture three states in the catalytic cycle of a pyridoxal phosphate (PLP) synthase.

Smith AM et al.

The Journal of Biological Chemistry, 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."