Varaico: Literature-Extracted Genetic Variants

Gene:GK
Variant:p.C72*
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GK

NM_001205019.2:p.C72*

Associated Papers

Pseudohypertriglyceridemia as a clue: clinical and genetic spectrum of glycerol kinase deficiency in three pediatric cases.

Kara C et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025

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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."