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Paper Details

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Am J Hum Genet
27
2020
ATAD3 Gene Cluster, ATAD3 gene cluster variants, ATAD3 locus, ATAD3A, ATAD3A deficiency, ATAD3A variants, ATAD3C, ATAD3C exon 7, Cholesterol, biallelic deletions, cardiomyopathy, cholesterol, corneal opacities, duplication allele, encephalopathy, exon 11, fibroblasts, fusion gene, fusion gene product, hypotonia, metabolic disorder, mitochondrial DNA, mitochondrial disease, mitochondrial disorder, recombinant junction, seizures
Author NameAffiliation
Emma L BapleRoyal Devon and Exeter NHS Foundation Trust, UK Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter
Robert W TaylorTranslational and Clinical Research Institute, Newcastle University
Wan-Hee YoonOklahoma Medical Research Foundation
Caroline F WrightInstitute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
Sian EllardRoyal Devon and Exeter NHS Foundation Trust, UK Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter
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