Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.L72insFs
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FECH

NM_000140.5:p.L72insFs

Associated Papers

Ultraviolet A phototest positivity is associated with higher free erythrocyte protoporphyrin IX concentration and lower transferrin saturation values in erythropoietic protoporphyria.

Genovese G et al.

Photodermatology, Photoimmunology & Photomedicine, 2022

Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients.

Granata F et al.

Frontiers in Physiology, 2022

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.

Ventura P et al.

European Journal of Dermatology : Ejd, 2020

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: four novel frameshift mutations in the ferrochelatase gene.

Wang X et al.

The Journal of Investigative Dermatology, 1997

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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."