Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.L208P
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CTSA

NM_000308.4:p.L208P

Associated Papers

SNPs, protein structure, and disease.

Wang Z et al.

Human Mutation, 2001

Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A.

van der Spoel A et al.

The Embo Journal, 1998

The atomic model of the human protective protein/cathepsin A suggests a structural basis for galactosialidosis.

Rudenko G et al.

Proceedings of the National Academy of Sciences of the United States of America, 1998

Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.

Zhou XY et al.

Human Molecular Genetics, 1996

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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."