Varaico: Literature-Extracted Genetic Variants

Gene:GSS
Variant:p.E144K
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GSS

NM_000178.4:p.E144K

Associated Papers

Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up.

Ekuni S et al.

The American Journal of Case Reports, 2023

Function of conserved residues of human glutathione synthetase: implications for the ATP-grasp enzymes.

Dinescu A et al.

The Journal of Biological Chemistry, 2004

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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."