Varaico: Literature-Extracted Genetic Variants

Gene:UROS
Variant:p.P190L
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UROS

NM_000375.3:p.P190L

Associated Papers

Congenital erythropoietic porphyria: A case series of a rare uroporphyrinogen III synthase gene mutation in Nepalese patients.

Bhusal M et al.

Jaad Case Reports, 2021

Advances in understanding the pathogenesis of congenital erythropoietic porphyria.

Di Pierro E et al.

British Journal of Haematology, 2016

Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options.

Pandey M et al.

Journal of Pediatric Hematology/oncology, 2013

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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."