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Fletta eftir efnisorði "Oxunarálag"

Fletta eftir efnisorði "Oxunarálag"

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    Mechanistic insights into the role of KMT2D in Kabuki syndrome 1 
    Halldórsdóttir, Sara Tholl (University of Iceland, School of Health Sciences, Faculty of Medicine, 2025-06)
    Kabuki syndrome type 1 (KS1) is a Mendelian disorder of the epigenetic machinery (MDEM) caused by heterozygous pathogenic variants in the histone methyltransferase 2 D (KMT2D). KS is a multi-organ disorder with variable phenotypic presentations among ...