Varaico: Literature-Extracted Genetic Variants

Gene:FDXR
Variant:p.E384K
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FDXR

NM_024417.5:p.E384K

Associated Papers

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.

Stenton SL et al.

Human Mutation, 2021

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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."