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Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome

Doriana Misceo, Lokuliyanage Dona Samudita Senaratne,Inger-Lise Mero,Arvind Y. M. Sundaram,Pal Marius Bjornstad,Krzysztof Szczaluba,Piotr Gasperowicz,Benjamin Kamien,Bard Nedregaard,Asbjorn Holmgren,Petter Stromme,Eirik Frengen

Genes（2023）

引用 1|浏览27
关键词
CENPF,ciliopathy,intestinal atresia,LR-WGS,structural variant,Stromme syndrome
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