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
Database: MEDLINE Ultimate
Description
ISSN:1531-8257
DOI:10.1002/mds.70428