Varaico: Literature-Extracted Genetic Variants

Gene:CTSF
Variant:p.L318delFs
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CTSF

NM_003793.4:p.L318delFs

Associated Papers

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20

N-terminally truncated forms of human cathepsin F accumulate in aggresome-like inclusions.

Jerič B et al.

Biochimica Et Biophysica Acta, 2013

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.

Smith KR et al.

Human Molecular Genetics, 2013

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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."