Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.S264P
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FECH

NM_000140.5:p.S264P

Associated Papers

Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.

Gouya L et al.

Blood, 1999

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

Rüfenacht UB et al.

American Journal of Human Genetics, 1998

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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."