Browsing by Subject "Germ-Line Mutation"
Now showing items 1-2 of 2
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BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects
(2020)Germline BRCA1 and BRCA2 loss-of-function variants have been linked to increased breast and ovarian cancer risk, with more than 5,000 distinct pathogenic variants being reported worldwide. Among individuals of Greek descent, ... -
Extending the clinical phenotype associated with biallelic NTHL1 germline mutations
(2018)[No abstract available]