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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Adam C. Gunning,Klaudia Strucinska,Mikel Munoz Oreja,Andrew Parrish,Richard Caswell,Karen L. Stals,Romina Durigon, Karina Durlacher-Betzer,Mitchell H. Cunningham,Christopher M. Grochowski,Julia Baptista,Carolyn Tysoe,Emma Baple,Nayana Lahiri,Tessa Homfray,Ingrid Scurr,Catherine Armstrong,John Dean,Uxoa Fernandez Pelayo,Aleck W. E. Jones,Robert W. Taylor,Vinod K. Misra,Wan Hee Yoon,Caroline F. Wright,James R. Lupski,Antonella Spinazzola,Tamar Harel,Ian J. Holt,Sian Ellard

The American Journal of Human Genetics（2020）

Cited 35|Views131
Key words
mitochondrial DNA,cholesterol,cardiomyopathy,ATAD3,ATAD3 gene cluster,NAHR,non-allelic homologous recombination,metabolic disorder,Harel-Yoon
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