Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.G99delFs
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CTSA

NM_000308.4:p.G99delFs

Associated Papers

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.

Puentes-Tellez MA et al.

Heliyon, 2020

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

Prada CE et al.

European Journal of Medical Genetics, 2014

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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."