Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.V132M
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CTSA

NM_000308.4:p.V132M

Associated Papers

Galactosialidosis: review and analysis of CTSA gene mutations.

Caciotti A et al.

Orphanet Journal of Rare Diseases, 2013

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients.

Coutinho MF et al.

Clinical Genetics, 2012

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."