A spectrum of recessiveness among Mendelian disease variants in UK Biobank
Alison R. Barton, Margaux L.A. Hujoel, Ronen E. Mukamel, Maxwell A. Sherman, Po‐Ru Loh
Topics & Concepts
PenetranceMendelian inheritanceMissense mutationAlleleGeneticsPhenotypeDiseaseExomeBiologyExome sequencingMedicinePathologyGeneGenetic Syndromes and ImprintingGenetic Associations and EpidemiologyGenomics and Rare Diseases