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| Gene Symbol | NTHL1 | ||||||||||
| Synonyms | FAP3 | hNTH1 | NTH1 | OCTS3 | ||||||||||
| Gene Description | NTHL1, nth like DNA glycosylase 1, is involved in the initiation of base excision repair (BER) via excision of oxidatively damaged pyrimidines (PMID: 33087284, PMID: 38483510, PMID: 9705289). Germline mutations in NTHL1 cause Nthl1 tumor syndrome, which is associated with colorectal adenomatous polyposis, colorectal cancer (PMID: 25938944, PMID: 37727376), and breast cancer (PMID: 32949222, PMID: 38036545). | ||||||||||
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