Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.Q882*
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GNPTAB

NM_024312.5:p.Q882*

Associated Papers

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF

Mucolipidoses Overview: Past, Present, and Future.

Khan SA et al.

International Journal of Molecular Sciences, 2020

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

Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.

Wang Y et al.

Acta Pharmacologica Sinica, 2019

A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease).

Wang P et al.

Bmc Veterinary Research, 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."