Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.L18delFs
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FECH

NM_000140.5:p.L18delFs

Associated Papers

[Molecular genetic study of acute intermittent porphyria in Russia: mutation analysis and functional polymorphism search in porphobilinogen deaminase gene].

Surin VL et al.

Genetika, 2010

Molecular epidemiology of erythropoietic protoporphyria in the U.K.

Whatley SD et al.

The British Journal of Dermatology, 2010

The molecular genetics of erythropoietic protoporphyria.

Elder GH et al.

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

[Three new mutations in the porphobilinogen deaminase gene, detected in acute intermittent porphyria patients from Russia].

Surin VL et al.

Genetika, 2001

[The initial results of detecting mutations in the gene of the porphobilinogen deaminase enzyme in patients with acute intermittent porphyria in Russia].

Pivnik AV et al.

Terapevticheskii Arkhiv, 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."