Varaico: Literature-Extracted Genetic Variants

Gene:UROD
Variant:p.S219F
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UROD

NM_000374.5:p.S219F

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

Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda.

Savino M et al.

Human Genetics, 2010

Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda.

Brancaleoni V et al.

Human Genetics, 2010

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 › TypeI-

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

Human gene mutations. Gene symbol: UROD. Disease: Porphyria, cutanea tarda.

Martinez di Montemuros F et al.

Human Genetics, 2004

Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).

Cappellini MD et al.

Human Mutation, 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."