Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.R68W
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GNPTAB

NM_024312.5:p.R68W

Associated Papers

Genetic analyses of a large consanguineous south Indian family reveal novel variants in NAGPA and four hitherto unreported genes in developmental stuttering.

Nandhini Devi G et al.

Annals of Human Genetics, 2025

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.

Sheth H et al.

Human Genomics, 2024

38730490 (PubMed )
Supplement: 40246_2024_613_MOESM5_ESM.xlsx › Table

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
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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."