Population based analysis of POT1 variants in a cutaneous melanoma case control cohort
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https://www.omicsdi.org/dataset/ega/EGAS00001006870
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资源简介：
Pathogenic germline variants in the protection of telomeres 1 gene (POT1) have been associated with predisposition to a range of tumor types, including melanoma, glioma, leukemia and cardioangiosarcoma. We sequenced all coding exons of the POT1 gene in 2,929 European-descent melanoma cases and 3,298 controls, identifying 43 protein-changing genetic variants. We performed functional studies on each of these variants and explored their possible contribution to disease risk.EGA study EGAS00001006870
创建时间：
2023-01-19
