Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.M72V
Back to variants list

GLB1

NM_000404.4:p.M72V

Associated Papers

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."