Varaico: Literature-Extracted Genetic Variants

Gene:GLS2
Variant:p.T232insFs
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GLS2

NM_013267.4:p.T232insFs

Associated Papers

Neonatal Encephalopathy due to Glutaminase Deficiency in a Neonate.

Achanta U et al.

Clinical Case Reports, 2024

A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.

Rumping L et al.

Jimd Reports, 2023

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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."