Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.E359_C360Splc
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FECH

NM_000140.5:p.E359_C360Splc

Associated Papers

Role of phlebotomy in the treatment of liver damage related to erythropoietic porphyria.

Hagiwara S et al.

Scientific Reports, 2022

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.

Gouya L et al.

American Journal of Human Genetics, 2006

Hypermethylation of the wild-type ferrochelatase allele is closely associated with severe liver complication in a family with erythropoietic protoporphyria.

Onaga Y et al.

Biochemical and Biophysical Research Communications, 2004

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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."