Varaico: Literature-Extracted Genetic Variants

Gene:UROD
Variant:p.K297N
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UROD

NM_000374.5:p.K297N

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

Structural and kinetic characterization of mutant human uroporphyrinogen decarboxylases.

Warby CA et al.

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

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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."