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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FOXRED1

Variant:p.C284R

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FOXRED1

NM_017547.4:p.C284R

hg38:chr11:126276098 T>C

Associated Papers

Biallelic FOXRED1 mutations cause infantile mitochondrial encephalopathy with complex I disassembly and basal ganglia degeneration.

Pan C et al.

Mitochondrion, 2025

41412221 (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."