Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.I71_L72insFs
Back to variants list

FECH

NM_000140.5:p.I71_L72insFs

Associated Papers

Iron availability modulates aberrant splicing of ferrochelatase through the iron- and 2-oxoglutarate dependent dioxygenase Jmjd6 and U2AF(65.).

Barman-Aksözen J et al.

Blood Cells, Molecules & Diseases, 2013

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

Four novel mutations of the coproporphyrinogen III oxidase gene.

Aurizi C et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2009

Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.

Aurizi C et al.

Molecular Genetics and Metabolism, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."