Varaico: Literature-Extracted Genetic Variants

Gene:FUCA2
Variant:p.E193*
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FUCA2

NM_032020.5:p.E193*

Associated Papers

Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.

Michalski JC et al.

Biochimica Et Biophysica Acta, 1999

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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."