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Long-Read Sequencing to Unravel Complex Structural Variants of <i>CEP78</i> Leading to Cone-Rod Dystrophy and Hearing Loss.

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作者单位: Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium. [1] Department of Biomolecular Medicine, Ghent University, Ghent, Belgium. [2] The Kennedy Center, Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. [3] Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium. [4] Department of Ophthalmology, Antwerp University Hospital, Antwerp, Belgium. [5] Great Ormond Street Hospital, London, United Kingdom. [6] Moorfields Eye Hospital, London, United Kingdom. [7] UCL Institute of Ophthalmology, London, United Kingdom. [8] Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium. [9] Department of Pathology, Ghent University Hospital, Ghent, Belgium. [10] Department of Diagnostic Sciences, Ghent University, Ghent, Belgium. [11] Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. [12] Neuromics Support Facility, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. [13] Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. [14] Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. [15] Department of Ophthalmology, Rigshospitalet-Glostrup, University of Copenhagen, Glostrup, Denmark. [16] Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark. [17]
DOI 10.3389/fcell.2021.664317
PMID 33968938
发布时间 2021-05-13
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Frontiers in cell and developmental biology

2021年9卷

664317页

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