Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.R96*
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FECH

NM_000140.5:p.R96*

Associated Papers

A case of erythrogenic protoporphyria with thyrotoxicosis and liver dysfunction in an adult female.

Li Q et al.

Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2023

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.

Ventura P et al.

European Journal of Dermatology : Ejd, 2020

The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria.

Mizawa M et al.

Jaad Case Reports, 2017

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

Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.

Wahlin S et al.

Journal of Internal Medicine, 2011

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

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

Rüfenacht UB et al.

American Journal of Human Genetics, 1998

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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."