Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.D418A
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GNPTAB

NM_024312.5:p.D418A

Associated Papers

Structure of the human GlcNAc-1-phosphotransferase αβ subunits reveals regulatory mechanism for lysosomal enzyme glycan phosphorylation.

Li H et al.

Nature Structural & Molecular Biology, 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."