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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RTN4

Variant:p.L209L

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RTN4

NM_020532.5:p.L209L

hg38:chr2:55027474 A>G

Associated Papers

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

Gueneau L et al.

American Journal of Human Genetics, 2009

19716112 (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."