Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.K304_V305Splc
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FECH

NM_000140.5:p.K304_V305Splc

Associated Papers

[Inheritance in erythropoietic protoporphyria].

Schmitt C et al.

Pathologie-biologie, 2010

Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.

Rivolta C et al.

Human Mutation, 2006

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."