Varaico: Literature-Extracted Genetic Variants

Gene:FDXR
Variant:p.P144L
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FDXR

NM_024417.5:p.P144L

Associated Papers

Unraveling the molecular determinants of a rare human mitochondrial disorder caused by the P144L mutation of FDX2.

Grifagni D et al.

Protein Science : a Publication of the Protein Society, 2024

Seven new mutations in the nicotinamide adenine dinucleotide reduced-cytochrome b(5) reductase gene leading to methemoglobinemia type I.

Dekker J et al.

Blood, 2001

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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."