Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.Q139*
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FECH

NM_000140.5:p.Q139*

Associated Papers

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.

Ventura P et al.

European Journal of Dermatology : Ejd, 2020

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

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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."