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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFS4

Variant:p.E139Fs

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NDUFS4

NM_002495.4:p.E139Fs

hg38:chr5:53658616 AA>C

Associated Papers

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.

Ahmed ST et al.

Scientific Reports, 2017

29142257 (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."