Varaico: Literature-Extracted Genetic Variants

Gene:HPGDS
Variant:p.R173W
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HPGDS

NM_014485.3:p.R173W

Associated Papers

Characterization of porphobilinogen deaminase mutants reveals that arginine-173 is crucial for polypyrrole elongation mechanism.

Bustad HJ et al.

Iscience, 2021

Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.

Bustad HJ et al.

Bioscience Reports, 2013

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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."