Varaico: Literature-Extracted Genetic Variants

Gene:UROD
Variant:p.E314_E315Splc
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UROD

NM_000374.5:p.E314_E315Splc

Associated Papers

Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.

Méndez M et al.

Molecular Genetics and Metabolism, 2012

HFE gene mutations in patients with altered iron metabolism in Argentina.

Rossetti MV et al.

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

Human hereditary hepatic porphyrias.

Nordmann Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2002

Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria.

Mendez M et al.

Human Mutation, 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."