Varaico: Literature-Extracted Genetic Variants

Gene:COQ6
Variant:p.W188*
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COQ6

NM_182476.3:p.W188*

Associated Papers

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 › COQ6

The molecular genetics of coenzyme Q biosynthesis in health and disease.

Laredj LN et al.

Biochimie, 2014

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

Heeringa SF et al.

The Journal of Clinical Investigation, 2011

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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."