Bi-allelic FRA10AC1 variants in a multisystem human syndrome.
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| Title: | Bi-allelic FRA10AC1 variants in a multisystem human syndrome. |
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| Authors: | Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Shalev S; The Genetics Institute, Emek Medical Center, Afula, Rappaport Faculty of Medicine, Technion, Haifa, Israel., Park SM; Department of Clinical Genetics, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Wood KA; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Thomas HB; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Wright HL; Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK., Alyahya M; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Department of Health support services, Ministry of Health, Saudi Arabia.; Wadi General Hospital, Ministry of Health, Saudi Arabia., Bankier S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Alimi O; The Genetics Institute, Emek Medical Center, Afula, Rappaport Faculty of Medicine, Technion, Haifa, Israel., Chervinsky E; The Genetics Institute, Emek Medical Center, Afula, Rappaport Faculty of Medicine, Technion, Haifa, Israel., Zeef LAH; Bioinformatics Core Facility, The Faculty of Medicine and Health, University of Manchester, Manchester, UK., O'Keefe RT; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. |
| Source: | Brain : a journal of neurology [Brain] 2022 Oct 21; Vol. 145 (10), pp. e86-e89. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't; Comment |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1460-2156 |
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| DOI: | 10.1093/brain/awac262 |
