Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.D128insFs
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GNE

NM_001128227.3:p.D128insFs

Associated Papers

Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review.

Xu Z et al.

Clinical Case Reports, 2022

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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."