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Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications.
Journal article
Rimmer A. et al, (2014), Nat Genet, 46, 912 - 918
Characterization of conserved tandem donor sites and intronic motifs required for alternative splicing in corticosteroid receptor genes.
Journal article
Rivers C. et al, (2009), Endocrinology, 150, 4958 - 4967
