Associated Papers
Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.
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Translational Oncology, 2025
40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA1
Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.
Blair E et al.
Journal of Medical Genetics, 2001
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