Varaico: Literature-Extracted Genetic Variants

Gene:COQ9
Variant:p.I121T
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COQ9

NM_020312.4:p.I121T

Associated Papers

Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome.

Fareed M et al.

Scientific Reports, 2021

Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.

Hughes BG et al.

Scientific Reports, 2017

29255295 (PubMed )
Supplement: 41598_2017_17564_MOESM3_ESM.xlsx › COQ9
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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."