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Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia

Title: Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia
Authors: Fleming, AndrewAff1; Galey, MirandaAff2, Aff3; Briggs, LiziAff1; Edwards, MatthewAff1; Hogg, ClaireAff4, Aff5; John, ShibuAff1; Wilkinson, SamAff1; Quinn, EllieAff1; Rai, RanjitAff4; Burgoyne, TomAff4, Aff6; Rogers, AndyAff4; Patel, Mitali P.Aff6, Aff7; Griffin, PaulAff4; Muller, StevenAff1; Carr, Siobhan B.Aff4, Aff5; Loebinger, Michael R.Aff4, Aff5; Lucas, Jane S.Aff8, Aff9; Shah, AnandAff4, Aff10; Jose, RicardoAff4; Mitchison, Hannah M.Aff6, Aff7; Shoemark, AmeliaAff4, Aff11; Miller, Danny E.Aff2, Aff3, Aff12; Morris-Rosendahl, Deborah J.Aff1, Aff5, IDs41431024015997_cor23
Source: European Journal of Human Genetics. 32(9):1074-1085
Database: Springer Nature Journals