Varaico: Literature-Extracted Genetic Variants

Gene:COQ6
Variant:p.V406M
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COQ6

NM_182476.3:p.V406M

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 › COQ6

CMPD: cancer mutant proteome database.

Huang PJ et al.

Nucleic Acids Research, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AO-A03R-01A.domain
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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."