Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.I114I
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ARSB

NM_000046.5:p.I114I

Associated Papers

Epidemiology of Mucopolysaccharidoses Update.

Çelik B et al.

Diagnostics (basel, Switzerland), 2021

Deletion of exon 4 in the N-acetylgalactosamine-4-sulfatase gene in a Taiwanese patient with mucopolysaccharidosis type VI.

Lin WD et al.

The Tohoku Journal of Experimental Medicine, 2015

Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.

Lin WD et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

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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."