Varaico: Literature-Extracted Genetic Variants

Gene:UROD
Variant:p.A22V
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UROD

NM_000374.5:p.A22V

Associated Papers

Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.

Gómez-Abecia S et al.

Gene, 2013

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."