Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.P62R
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FECH

NM_000140.5:p.P62R

Associated Papers

Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.

Dickey AK et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32873934 (PubMed )
Supplement: NIHMS1630820-supplement-Supplementary___Appendix__online_only_material__etc__.pdf

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

[Inheritance in erythropoietic protoporphyria].

Schmitt C et al.

Pathologie-biologie, 2010

Erythropoietic protoporphyria: a functional analysis of the leader sequence of human ferrochelatase.

Cobbold C et al.

Molecular Genetics and Metabolism, 2006

Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations.

Poh-Fitzpatrick MB et al.

Journal of the American Academy of Dermatology, 2002

Theodore Woodward Award. Pathogenesis of biochemical abnormalities in protoporphyria.

Bloomer JR et al.

Transactions of the American Clinical and Climatological Association, 2000

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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."