Varaico: Literature-Extracted Genetic Variants

Gene:UROS
Variant:p.K2delFs
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UROS

NM_000375.3:p.K2delFs

Associated Papers

Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.

Weiss Y et al.

Molecular Genetics and Metabolism, 2019

A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases.

Katugampola RP et al.

The British Journal of Dermatology, 2012

Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.

Katugampola RP et al.

The British Journal of Dermatology, 2012

A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.

Fontanellas A et al.

European Journal of Human Genetics : Ejhg, 1996

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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."