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Long-read Sequencing Identifies a Common Transposition Haplotype Predisposing for CLCNKB Deletions.

Nikolai Tschernoster,Florian Erger,Stefan Kohl,Björn Reusch,Andrea Wenzel,Stephen Walsh,Holger Thiele,Christian Becker,Marek Franitza,Malte P. Bartram,Martin Kömhoff,Lena Schumacher,Christian Kukat,Tatiana Borodina,Claudia Quedenau,Peter Nürnberg,Markus M Rinschen, Jan H. Driller,Bjørn P. Pedersen,Karl P. Schlingmann,Bruno Hüttel,Detlef Bockenhauer,Bodo Beck,Janine Altmüller

GENOME MEDICINE（2023）

Cited 1|Views21
Key words
Bartter syndrome type 3,Salt-wasting tubulopathy,Long-read sequencing,Target enrichment,CLCNKA,CLCNKB,Structural variant,Risk haplotype,Next-generation sequencing,HiFi-sequencing
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