遇见数据集

DDX11 sequencing in WABS patients

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NIAID Data Ecosystem2026-03-11 收录
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Warsaw Breakage Syndrome (WABS) is a rare disorder related to cohesinopathies and Fanconi anemia, caused by bi-allelic mutations in DDX11. Here, we report multiple compound heterozygous WABS cases.

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2020-07-13
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