Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.D356N
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GAA

NM_000152.5:p.D356N

Associated Papers

Mechanistic studies on bovine cytosolic 5'-nucleotidase II, an enzyme belonging to the HAD superfamily.

Allegrini S et al.

European Journal of Biochemistry, 2004

The DXD motif is required for GM2 synthase activity but is not critical for nucleotide binding.

Li J et al.

Glycobiology, 2001

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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."