Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.D196N
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HEXB

NM_000521.4:p.D196N

Associated Papers

Characterization of the Glu and Asp residues in the active site of human beta-hexosaminidase B.

Hou Y et al.

Biochemistry, 2001

Identification of an active acidic residue in the catalytic site of beta-hexosaminidase.

Tse R et al.

Biochemistry, 1996

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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."