Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.D127Y
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GNPTG

NM_032520.5:p.D127Y

Associated Papers

Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells.

Di Lorenzo G et al.

Molecular & Cellular Proteomics : Mcp, 2018

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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."