Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.N259_L260Splc
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CTSA

NM_000308.4:p.N259_L260Splc

Associated Papers

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.

Morrone A et al.

Human Mutation, 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."