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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 2024-01-01
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Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus by Lukáš Strych, Monika Černá, Markéta Hejnalová, Tomáš Zavoral, Pavla Komrsková, Jitka Tejcová, Ibrahim Bitar, Eva Sládková, Josef Sýkora, Ivan Šubrt
Published 2024-01-01
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