Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.V95I
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CTSD

NM_001909.5:p.V95I

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

From Lysosomal Storage Disorders to Parkinson's Disease - Challenges and Opportunities.

Mächtel R et al.

Journal of Molecular Biology, 2023

Cathepsin D Variants Associated With Neurodegenerative Diseases Show Dysregulated Functionality and Modified α-Synuclein Degradation Properties.

Bunk J et al.

Frontiers in Cell and Developmental Biology, 2021

Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Blumenau S et al.

Scientific Reports, 2020

32345996 (PubMed )
Supplement: 41598_2020_63183_MOESM5_ESM.xlsx › S1

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

Sassi C et al.

Plos One, 2016

27249223 (PubMed )
Supplement: pone.0150079.s002.xlsx › Tabelle1
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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."