Varaico: Literature-Extracted Genetic Variants

Gene:UROD
Variant:p.F229L
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UROD

NM_000374.5:p.F229L

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

Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.

Méndez M et al.

The British Journal of Dermatology, 2007

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

Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.

Christiansen L et al.

Human Mutation, 1999

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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."