Varaico: Literature-Extracted Genetic Variants

Gene:UROD
Variant:p.R193P
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UROD

NM_000374.5:p.R193P

Associated Papers

Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.

Dsouza NR et al.

International Journal of Molecular Sciences, 2024

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

Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.

Aarsand AK et al.

Clinical Chemistry, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-

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

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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."