Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.R1145S
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GNPTAB

NM_024312.5:p.R1145S

Associated Papers

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.

Coutinho MF et al.

Jimd Reports, 2012

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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."