Varaico: Literature-Extracted Genetic Variants

Gene:CTSF
Variant:p.C326F
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CTSF

NM_003793.4:p.C326F

Associated Papers

Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy.

De Pasquale V et al.

Cells, 2020

Novel compound heterozygous mutations causing Kufs disease type B.

Wang C et al.

The International Journal of Neuroscience, 2018

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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."