Varaico: Literature-Extracted Genetic Variants

Gene:GPI
Variant:p.Y341C
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GPI

NM_000175.5:p.Y341C

Associated Papers

Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report.

Holme S et al.

Journal of Medical Case Reports, 2024

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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."