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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 2025-06-01Get full text
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A recurrent synonymous L1CAM variant in a fetus with hydrocephalus by Ivan Šubrt, Tomáš Zavoral, Lukáš Strych, Monika Černá, Markéta Hejnalová, Pavla Komrsková, Jitka Tejcová
Published 2024-01-01Get full text
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