Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.E864fs
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GNPTAB

NM_024312.5:p.E864fs

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

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

Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families.

Yu F et al.

International Journal of Clinical and Experimental Pathology, 2019

Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

Liu Y et al.

Plos One, 2015

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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."