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NDUFAF6 gene

Known as: MGC40214, CHROMOSOME 8 OPEN READING FRAME 38, C8ORF38 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Management of Leigh syndrome due to NDUFAF6 variants
2017
2017
[Clinical and genetic characteristics of children with Leigh syndrome].
Objective: To investigate the clinically and genetic characteristics of children with Leigh syndrome. Method: Patients with… 
2013
2013
Ndufaf5 deficiency in the Dictyostelium model: new roles in autophagy and development
Ndufaf5 is a conserved protein mutated in patients with mitochondrial complex I (CI) disease. A Dictyostelium model lacking… 
2013
2013
The use of whole exome sequencing to detect novel genetic disorders: Two cases and an assessment of the technology
Over the past several years whole exome sequencing (WES) by high-throughput sequencing of target-enriched genomic DNA has become… 
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