Varaico: Literature-Extracted Genetic Variants

Gene:GK
Variant:p.S139fs
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GK

NM_001205019.2:p.S139fs

Associated Papers

Incidental diagnosis of glycerol kinase deficiency during investigation of hyponatraemia and acute kidney injury.

Brixey-McCann R et al.

Annals of Clinical Biochemistry, 2026

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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."