Varaico: Literature-Extracted Genetic Variants

Gene:SFXN2
Variant:p.L73P
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SFXN2

NM_178858.6:p.L73P

Associated Papers

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia.

Takata A et al.

Genome Biology, 2011

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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."