Varaico: Literature-Extracted Genetic Variants

Gene:GLUL
Variant:p.R319H
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GLUL

NM_001033044.4:p.R319H

Associated Papers

Glutamine synthetase as a central element in hepatic glutamine and ammonia metabolism: novel aspects.

Frieg B et al.

Biological Chemistry, 2021

Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis.

Spodenkiewicz M et al.

Biology, 2016

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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."