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Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
Functional analysis of mutations in SLC7A9, and genotype鈥損henotype correlation in non-Type I cystinuria
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT
Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.
