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
The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance.
Ulu K et al.
Rheumatology (oxford, England), 2025
Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.
Aksentijevich I et al.
American Journal of Human Genetics, 1999
Select a paper to view details