Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.N105Splc
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FECH

NM_000140.5:p.N105Splc

Associated Papers

Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.

Wang Y et al.

Orphanet Journal of Rare Diseases, 2024

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

[Inheritance in erythropoietic protoporphyria].

Schmitt C et al.

Pathologie-biologie, 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

Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.

Holme SA et al.

The Journal of Investigative Dermatology, 2009

Molecular characterization of erythropoietic protoporphyria in South Africa.

Parker M et al.

The British Journal of Dermatology, 2008

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.

Gouya L et al.

American Journal of Human Genetics, 2006

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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."