A novel pathogenic variant in CHEK2 shows a founder effect in Portuguese Roma patients with thyroid cancer
收藏NIAID Data Ecosystem2026-03-12 收录
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资源简介：
Germline mutations in DNA repair-related genes have been recently reported in cases with familial non-medullary thyroid carcinoma (FNMTC). The aim of this study was to investigate the involvement of DNA repair-related genes in the aetiology of FNMTC in one family and in the Roma ethnic group. A novel founder pathogenic variant was identified, which is likely to underlie thyroid cancer and other cancer manifestations in the Roma population.
创建时间：
2020-10-12
