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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UROS

Variant:p.K220_F221Splc

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UROS

NM_000375.3:p.K220_F221Splc

hg38:chr10:125789006 C>G

Associated Papers

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

Mendez M et al.

Human Mutation, 2000

10980536 (PubMed )

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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."