Varaico: Literature-Extracted Genetic Variants

Gene:GLUL
Variant:p.K14N
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GLUL

NM_001033044.4:p.K14N

Associated Papers

Expanding the clinical and genetic spectrum of GLUL-related developmental and epileptic encephalopathy.

Oh DE et al.

Scientific Reports, 2025

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

Frieg B et al.

Biological Chemistry, 2021

MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.

Kerr M et al.

Molecular Genetics and Metabolism, 0

Two Siblings With Valproate-Related Hyperammonemia and Novel Mutations in Glutamine Synthetase (GLUL) Treated With Carglumic Acid.

Bennett J et al.

Child Neurology Open, 0

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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."