Varaico: Literature-Extracted Genetic Variants

Gene:HPGDS
Variant:p.R173K
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HPGDS

NM_014485.3:p.R173K

Associated Papers

Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.

Ulbrichova D et al.

The Febs Journal, 2009

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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."