Varaico: Literature-Extracted Genetic Variants

Gene:UROS
Variant:p.S197C
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UROS

NM_000375.3:p.S197C

Associated Papers

Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy.

Blouin JM et al.

Molecular Genetics and Metabolism Reports, 2021

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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."