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    Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome

    Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome by Lukas Strych, Tomas Zavoral, Pavla Komrskova, Tomas Vanecek, Ivan Subrt

    Published 2025-06-01
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