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Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions

ABSTRACT: Long-read whole genome sequencing, long-read long-range PCR sequencing, targetted long fragment long-read sequencing data of the CLCNKA/CLCNKB locus in 27 Bartter syndrome patients. Multiple different deletion alleles are identified and a new common transposition haplotype predisposing for CLCNKB deletions is described.

PROVIDER: EGAS00001007339 | EGA |

REPOSITORIES: EGA

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