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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HEXB

Variant:p.R211K

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HEXB

NM_000521.4:p.R211K

hg38:chr5:74697069 G>A

Associated Papers

Direct determination of the substrate specificity of the alpha-active site in heterodimeric beta-hexosaminidase A.

Hou Y et al.

Biochemistry, 1996

8672428 (PubMed )

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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."