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DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related Disease.

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Title: DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related Disease.
Authors: Wang X; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Fearnley LG; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Davies KC; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia., Snell P; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Lee S; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Jackson VE; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Read J; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia., Milton M; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Harding IH; QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.; Department of Neuroscience, School of Translational Medicine, Monash University, Melbourne, Victoria, Australia., Delatycki MB; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia., Szmulewicz DJ; Balance Disorders and Ataxia Service, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.; NeuroMovement Research Program, Bionics Institute, Fitzroy, Victoria, Australia., Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia., Bahlo M; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Rafehi H; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia.
Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2026 Jul 19. Date of Electronic Publication: 2026 Jul 19.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE
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  Data: DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related Disease.
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  Data: <searchLink fieldCode="AU" term="%22Wang+X%22">Wang X</searchLink>; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Fearnley+LG%22">Fearnley LG</searchLink>; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Davies+KC%22">Davies KC</searchLink>; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Snell+P%22">Snell P</searchLink>; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Lee+S%22">Lee S</searchLink>; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Jackson+VE%22">Jackson VE</searchLink>; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Read+J%22">Read J</searchLink>; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Milton+M%22">Milton M</searchLink>; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Harding+IH%22">Harding IH</searchLink>; QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.; Department of Neuroscience, School of Translational Medicine, Monash University, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Delatycki+MB%22">Delatycki MB</searchLink>; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Szmulewicz+DJ%22">Szmulewicz DJ</searchLink>; Balance Disorders and Ataxia Service, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.; NeuroMovement Research Program, Bionics Institute, Fitzroy, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Lockhart+PJ%22">Lockhart PJ</searchLink>; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Bahlo+M%22">Bahlo M</searchLink>; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Rafehi+H%22">Rafehi H</searchLink>; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia.
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              Text: 2026 Jul 19
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