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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RTN4IP1

Variant:p.S37_R39Fs

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RTN4IP1

NM_032730.5:p.S37_R39Fs

hg38:chr6:106628906 CTAG>TT

Associated Papers

RTN4IP1 is required for the final stages of mitochondrial complex I assembly and CoQ biosynthesis.

Oláhová M et al.

The Embo Journal, 2025

40859035 (PubMed )

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