Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.Q279E
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SULF1

NM_001128205.2:p.Q279E

Associated Papers

Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors.

Fan JQ et al.

The Febs Journal, 2007

Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.

Ishii S et al.

The Biochemical Journal, 2007

Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes.

Matsuzawa F et al.

Human Genetics, 2005

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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."