Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.S254C
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CTSB

NM_001908.5:p.S254C

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

Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.

Topping J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2025

39492681 (PubMed )
Supplement: ART-77-582-s014.pdf

Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Milanowski LM et al.

International Journal of Molecular Sciences, 2022

35806091 (PubMed )
Supplement: ijms-23-07086-s001.zip › Supplementary_Table_S2.xlsx › Biobank_PDExome
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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."