Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.D84H
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FECH

NM_000140.5:p.D84H

Associated Papers

Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria.

Di Pierro E et al.

Clinical Genetics, 2007

A point mutation affecting an SP1 binding site in the promoter of the ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria.

Di Pierro E et al.

Experimental Hematology, 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."