Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.D1152_N1153insFs
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GNPTAB

NM_024312.5:p.D1152_N1153insFs

Associated Papers

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Velho RV et al.

Human Mutation, 2019

A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth.

Heo JS et al.

Korean Journal of Pediatrics, 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."