Varaico: Literature-Extracted Genetic Variants

Gene:FDXR
Variant:p.R79H
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FDXR

NM_024417.5:p.R79H

Associated Papers

An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3.

Bouhouche A et al.

Bmc Medical Genetics, 2012

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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."