Varaico: Literature-Extracted Genetic Variants

Gene:UROS
Variant:p.V99L
Back to variants list

UROS

NM_000375.3:p.V99L

Associated Papers

Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.

Yasuda M et al.

Molecular Genetics and Metabolism, 2019

Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes.

Bishop DF et al.

Molecular Medicine (cambridge, Mass.), 2011

Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.

Bishop DF et al.

American Journal of Human Genetics, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."