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

GENOME MEDICINE(2023)

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关键词
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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