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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HEXA

Variant:p.Q357*

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HEXA

NM_000520.6:p.Q357*

hg38:chr15:72348052 G>A

Associated Papers

A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity.

Fan JQ

Biological Chemistry, 2008

18095864 (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."