Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.S699F
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GNE

NM_001128227.3:p.S699F

Associated Papers

Biosynthetic and genetic pathways related to sialic acid metabolism.

Huang S et al.

The Journal of Biological Chemistry, 2026

Novel biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathy.

Tsuda S et al.

Annals of Hematology, 2024

Severe and fatal toxicity after hematopoietic stem cell transplantation in GNE defect-associated thrombocytopenia.

Miśkiewicz-Bujna J et al.

Bone Marrow Transplantation, 2021

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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."