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FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease
Download from www.nature.comPredicted loss and gain of function mutations in ACO1 are associated with erythropoiesis
Download from www.nature.comThe nature of Neanderthal introgression revealed by 27,566 Icelandic genomes
Download from www.nature.comGraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs
Download from www.nature.comAssociations of autozygosity with a broad range of human phenotypes
Download from www.nature.comCharacterizing mutagenic effects of recombination through a sequence-level genetic map
UploadA loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis
Download from www.nature.comGenome-wide association meta-analysis yields 20 loci associated with gallstone disease
Download from www.nature.comMultiple transmissions of de novo mutations in families
Download from www.nature.comMAP1B mutations cause intellectual disability and extensive white matter deficit
Download from www.nature.comA truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin
Download from www.nature.comGraphtyper enables population-scale genotyping using pangenome graphs
Download from www.nature.comWhole genome characterization of sequence diversity of 15,220 Icelanders
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