Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.K379N
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FECH

NM_000140.5:p.K379N

Associated Papers

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

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

A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma.

Méndez M et al.

The British Journal of Dermatology, 2009

Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.

Holme SA et al.

The Journal of Investigative Dermatology, 2009

Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases.

Najahi-Missaoui W et al.

Blood, 2005

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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."