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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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https://www.omicsdi.org/dataset/ega/EGAS00001003809
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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
创建时间:
2021-03-23
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