Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.L72*
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FECH

NM_000140.5:p.L72*

Associated Papers

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.

Balwani M et al.

Molecular Medicine (cambridge, Mass.), 2013

[Inheritance in erythropoietic protoporphyria].

Schmitt C et al.

Pathologie-biologie, 2010

Molecular epidemiology of erythropoietic protoporphyria in the U.K.

Whatley SD et al.

The British Journal of Dermatology, 2010

The molecular genetics of erythropoietic protoporphyria.

Elder GH et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2009

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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."