Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Tschernoster N, Erger F, Kohl S, Reusch B, Wenzel A, Walsh S, Thiele H, Becker C, Franitza M, Bartram MP, Kömhoff M, Schumacher L, Kukat C, Borodina T, Quedenau C, Nürnberg P, Rinschen MM, Driller JH, Pedersen BP, Schlingmann KP, Hüttel B, Bockenhauer D, Beck B, Altmüller J.
Tschernoster N, et al. Among authors: driller jh.
Genome Med. 2023 Aug 23;15(1):62. doi: 10.1186/s13073-023-01215-1.
Genome Med. 2023.
PMID: 37612755
Free PMC article.