Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.S139_I142delFs
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GNE

NM_005476.7:p.S139_I142delFs

Associated Papers

GNE Mutation-related Congenital Thrombocytopenia in 2 Siblings: Case Reports and Literature Review.

Düzenli Kar Y et al.

Journal of Pediatric Hematology/oncology, 2026

Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE.

Smolag KI et al.

Frontiers in Immunology, 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."