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Whole-exome sequencing of Fanconi anemia-like inherited bone marrow failure syndrome

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NIAID Data Ecosystem2026-03-12 收录
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We identified three fibroblast cultures derived from aplastic anemia patients in the Japanese Cancer Research Resources Bank (JCRB) Cell Bank that showed high levels of sister chromatid exchanges (SCEs) in PHA-stimulated lymphoblasts. To elucidate the genetic basis of the high SCE, we carried out whole exome sequencing of these samples. Subsequently, germline variants were analysed for these patients.EGA study EGAS00001003809

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2021-03-23
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