Varaico: Literature-Extracted Genetic Variants

Gene:NFE2
Variant:p.R167Q
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NFE2

NM_001136023.3:p.R167Q

Associated Papers

The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.

Hudler P et al.

Genes, 2022

Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.

Astrin KH et al.

Human Mutation, 1994

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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."