Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.S89R
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CTSA

NM_000308.4:p.S89R

Associated Papers

Clinical spectrum and outcome of nine patients with a novel genetic variant of galactosialidosis in the Kingdom of Bahrain.

Alsahlawi Z et al.

Jimd Reports, 2022

Placental Findings in Lysosomal Storage Disease Diagnosis: A Case Report of Galactosialidosis.

Libbrecht S et al.

Case Reports in Pathology, 2020

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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."