Fanconi anaemiapoly (ADP-ribose) polymerase inhibitor therapy
…d saturation genome editing assays (PS3) and a reported case of Fanconi anaemia (PM3_Moderate). This variant is rare, with an allele frequency …
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…d saturation genome editing assays (PS3) and a reported case of Fanconi anaemia (PM3_Moderate). This variant is rare, with an allele frequency …
…netrance, similar to other pathogenic variants in moderate risk breast cancer genes such as ATM and CHEK2. We also provide risk-adapted recom…