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Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
Download from doi.orgThe interleukin-11 receptor variant p.W307R results in craniosynostosis in humans
Download from doi.orgGermline C1GALT1C1 mutation causes a multisystem chaperonopathy
Download from doi.orgThe Fate of Oxidative Strand Breaks in Mitochondrial DNA
Download from doi.orgGenomic ALK alterations in primary and relapsed neuroblastoma
Download from www.nature.comModeling of ACTN4-Based Podocytopathy Using Drosophila Nephrocytes
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