Varaico: Literature-Extracted Genetic Variants

Gene:UROD
Variant:p.L282R
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UROD

NM_000374.5:p.L282R

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

The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene.

Poblete-Gutiérrez P et al.

Experimental Dermatology, 2004

Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.

Phillips JD et al.

Blood, 2001

Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.

Brady JJ et al.

The Journal of Investigative Dermatology, 2000

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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."