Varaico: Literature-Extracted Genetic Variants

Gene:GNS
Variant:p.R193W
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GNS

NM_002076.4:p.R193W

Associated Papers

Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.

Senkevich K et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41757160 (PubMed )
Supplement: media-1.xlsx › S2_Rare_variants

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

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.

Dhamija R et al.

European Journal of Medical Genetics, 2014

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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."