Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.R266H
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CTSD

NM_001909.5:p.R266H

Associated Papers

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

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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."