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1 Ergebnisse
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Long-read sequencing identifies a common transposition hapl..:
Tschernoster, Nikolai
;
Erger, Florian
;
Kohl, Stefan
...
https://discovery.ucl.ac.uk/id/eprint/10176213/1/s13073-023-01215-1.pdf. , 2023
Link:
https://discovery.ucl.ac.uk/id/eprint/10176213/1/s1307..
RT Journal T1
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10176213&Exemplar=1&LAN=DE A1 Tschernoster, Nikolai A1 Erger, Florian A1 Kohl, Stefan A1 Reusch, Björn A1 Wenzel, Andrea A1 Walsh, Stephen A1 Thiele, Holger A1 Becker, Christian A1 Franitza, Marek A1 Bartram, Malte P A1 Kömhoff, Martin A1 Schumacher, Lena A1 Kukat, Christian A1 Borodina, Tatiana A1 Quedenau, Claudia A1 Nürnberg, Peter A1 Rinschen, Markus M A1 Driller, Jan H A1 Pedersen, Bjørn P A1 Schlingmann, Karl P A1 Hüttel, Bruno A1 Bockenhauer, Detlef A1 Beck, Bodo A1 Altmüller, Janine PB Springer Science and Business Media LLC YR 2023 K1 Bartter syndrome type 3 K1 CLCNKA K1 CLCNKB K1 HiFi-sequencing K1 Long-read sequencing K1 Next-generation sequencing K1 Risk haplotype K1 Salt-wasting tubulopathy K1 Structural variant K1 Target enrichment K1 Humans K1 Haplotypes K1 Alleles K1 Bartter Syndrome K1 Genome K1 Human K1 Chloride Channels JF https://discovery.ucl.ac.uk/id/eprint/10176213/1/s13073-023-01215-1.pdf LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10176213/1/s13073-023-01215-1.pdf DO https://discovery.ucl.ac.uk/id/eprint/10176213/1/s13073-023-01215-1.pdf SF ELIB - SuUB Bremen
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