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

Abstract excerpt

Primary ubiquinone (UQ) deficiency is an important subset of mitochondrial disease that is caused by mutations in UQ biosynthesis genes. To guide therapeutic efforts we sought to estimate the number of individuals who are born with pathogenic variants likely to cause this disorder. We used the NCBI ClinVar database and literature reviews to identify pathogenic genetic variants that have been shown to cause...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Ataxia
• Share to Databases, Nucleic Acid
• Share to Exome