Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.K237E
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CTSB

NM_001908.5:p.K237E

Associated Papers

An integrated picture of chronic pancreatitis derived by mapping variants in multiple disease genes onto pathogenic pathways.

Prasad H et al.

Human Molecular Genetics, 2024

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS12

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.

van der Welle REN et al.

Embo Molecular Medicine, 2021

33851776 (PubMed )
Supplement: EMMM-13-e13258-s002.zip › Dataset_EV1.xlsx › Sheet1
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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."