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- 2019
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor PhenotypeDOI: https://doi.org/10.1016/j.ccell.2018.12.011 Abstract: ? Biallelic germline NTHL1 mutations predispose to a multi-tumor syndrome ? Biallelic germline NTHL1 mutation carriers are at risk for breast cancer ? Tumors from NTHL1-deficient patients reveal a cross-cancer NTHL1-associated signature ? Mutational signature analyses can assist to identify germline DNA repair defect
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