Varaico: Literature-Extracted Genetic Variants

Gene:UROD
Variant:p.F84I
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UROD

NM_000374.5:p.F84I

Associated Papers

Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes.

Lim KH et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.

Badenas C et al.

Clinical Genetics, 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."