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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FDXR

Variant:p.G437R

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FDXR

NM_024417.5:p.G437R

hg38:chr17:74863112 C>G

Associated Papers

A molecular basis of Ferredoxin Reductase (FdxR) mutations that result in mitochondriopathies.

Kumar A et al.

Journal of Inorganic Biochemistry, 2025

40479788 (PubMed )

FDXR variants cause adrenal insufficiency and atypical sexual development.

Pignatti E et al.

Jci Insight, 2024

38885337 (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."