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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NFE2

Variant:p.R167W

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NFE2

NM_001136023.3:p.R167W

hg38:chr12:54292997 G>A

Associated Papers

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

Astrin KH et al.

Human Mutation, 1994

7866402 (PubMed )

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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."