Associated Papers
Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.
Shi Q et al.
Translational Oncology, 2025
40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA1
Expanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.
Vietri MT et al.
International Journal of Molecular Sciences, 2025
40649708 (PubMed )
Supplement: ijms-26-05928-s001.zip › ijms-3676111-supplementary.pdf
Dystrophin point mutation screening using a multiplexed protein truncation test.
Whittock NV et al.
Genetic Testing, 1997
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