Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.R253_S254delFs
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FECH

NM_000140.5:p.R253_S254delFs

Associated Papers

Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.

Wang Y et al.

Orphanet Journal of Rare Diseases, 2024

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

Granata F et al.

Frontiers in Physiology, 2022

35923227 (PubMed )
Supplement: DataSheet1.pdf

Geographic prevalence variation and phenotype penetrance in porphyria: insights from a Chinese population database.

Li P et al.

Blood Advances, 2021

33570620 (PubMed )
Supplement: advancesadv2020003150-suppl1.pdf

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.

Ventura P et al.

European Journal of Dermatology : Ejd, 2020

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

Molecular characterization of erythropoietic protoporphyria in South Africa.

Parker M et al.

The British Journal of Dermatology, 2008

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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."