Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewed
Clinical case study meets population cohort: Identification of a BRCA1 pathogenic founder variant in Orcadians
Shona M. Kerr, Emma Cowan, Lucija Klarić…·Zosia Miedzybrodzka
The paper identifies a BRCA1 founder variant in Orcadians and estimates its high prevalence, suggesting population screening for this variant.
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