Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.L91R
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CTSA

NM_000308.4:p.L91R

Associated Papers

Molecular pathology of NEU1 gene in sialidosis.

Seyrantepe V et al.

Human Mutation, 2003

Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.

Callahan JW

Biochimica Et Biophysica Acta, 1999

Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.

Bonten E et al.

Genes & Development, 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."