Varaico: Literature-Extracted Genetic Variants

Gene:UROD
Variant:p.G7Splc
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UROD

NM_000374.5:p.G7Splc

Associated Papers

Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Sakaguchi N et al.

Npj Genomic Medicine, 2022

35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1

Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.

Aarsand AK et al.

Clinical Chemistry, 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."