Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.V428delFs
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CTSA

NM_000308.4:p.V428delFs

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

A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene.

Kartal A et al.

Metabolic Brain Disease, 2017

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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."