Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.L110Q
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CTSA

NM_000308.4:p.L110Q

Associated Papers

Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses.

Losada Díaz JC et al.

International Journal of Molecular Sciences, 2019

The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient.

Caciotti A et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2009

Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

Caciotti A et al.

The American Journal of Pathology, 2005

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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."