Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.N351insFs
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GNPTAB

NM_024312.5:p.N351insFs

Associated Papers

CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients.

Ammer LS et al.

Journal of Clinical Medicine, 2023

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

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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."