Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.W28*
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FECH

NM_000140.5:p.W28*

Associated Papers

A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.

Farrag MS et al.

Folia Biologica, 2015

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

N-acetyl cysteine averted liver transplantation in a patient with liver failure caused by erythropoietic protoporphyria.

Sperl J et al.

Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 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."