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

ABSTRACT: 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.

PROVIDER: EGAS00001003809 | EGA |

REPOSITORIES: EGA

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