Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.Y251*
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SULF1

NM_001128205.2:p.Y251*

Associated Papers

The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.

Al-Sannaa NA et al.

Journal of Community Genetics, 2018

Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

Cobos PN et al.

Jimd Reports, 2015

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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."