Clinical case study meets population cohort : Identification of a BRCA1 pathogenic founder variant in Orcadians

Kerr, S M, Cowan, E, Klaric, L, Bell, C, O'Sullivan, D, Buchanan, D, Grzymsk, J J, van Hout, C V, Tzoneva, G, Shuldiner, A R, Wilson, J F & Miedzybrodzka, Z 2023, 'Clinical case study meets population cohort : Identification of a BRCA1 pathogenic founder variant in Orcadians', European Journal of Human Genetics, vol. 31, pp. 588-595. https://doi.org/10.1038/s41431-023-01297-w