Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.K237del1
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CTSB

NM_001908.5:p.K237del1

Associated Papers

The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons.

Jones-Tabah J et al.

Molecular Neurodegeneration, 2024

39587654 (PubMed )
Supplement: 13024_2024_779_MOESM1_ESM.xlsx › Supp_Table_13_-_gnomAD_CTSB_LOF

A germ line mutation in cathepsin B points toward a role in asparaginase pharmacokinetics.

van der Meer LT et al.

Blood, 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."