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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FXN

Variant:p.E92G

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FXN

NM_000144.5:p.E92G

hg38:chr9:69053151 A>G

Associated Papers

The in vivo mitochondrial two-step maturation of human frataxin.

Schmucker S et al.

Human Molecular Genetics, 2008

18725397 (PubMed )

Supplement: ddn244_Supplementary_Data.zip › ddn244supp.pdf

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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."