Varaico: Literature-Extracted Genetic Variants

Gene:UROD
Variant:p.G168R
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UROD

NM_000374.5:p.G168R

Associated Papers

Computational identification of pathogenic associated nsSNPs and its structural impact in UROD gene: a molecular dynamics approach.

Doss CG et al.

Cell Biochemistry and Biophysics, 2014

Structure, function, regulation and polymorphism and the clinical significance of human cytochrome P450 1A2.

Zhou SF et al.

Drug Metabolism Reviews, 2010

Structural and kinetic characterization of mutant human uroporphyrinogen decarboxylases.

Warby CA et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2009

Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP).

Phillips JD et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2007

Expression and characterization of six clinically relevant uroporphyrinogen decarboxylase gene mutations.

Christiansen L et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2005

Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.

Phillips JD et al.

Blood, 2001

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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."