Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.K453E
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CTSA

NM_000308.4:p.K453E

Associated Papers

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.

Takiguchi K et al.

Journal of Human Genetics, 2000

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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."