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Mutator phenotype and specific mutational signature explain an increased risk of hematological malignancies in patients with Xeroderma Pigmentosum

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NIAID Data Ecosystem2026-03-12 收录
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https://www.omicsdi.org/dataset/ega/EGAS00001004511
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In this study we report for the first time the unique collection of 6 leukemias and two sarcomas from XP-C. Comprehensive WGS-based mutational analysis provides genetic explanation for the increased incidence of leukemia in XP-C and describes an unique mutational process in internal tumors associated with NER deficiency.EGA study EGAS00001004511
创建时间:
2020-09-22
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