1. Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene
- Author
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Gudny A. Arnadottir, Asmundur Oddsson, Brynjar O. Jensson, Svanborg Gisladottir, Mariella T. Simon, Asgeir O. Arnthorsson, Hildigunnur Katrinardottir, Run Fridriksdottir, Erna V. Ivarsdottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Rebekah Barrick, Jona Saemundsdottir, Louise le Roux, Gudjon R. Oskarsson, Jurate Asmundsson, Thora Steffensen, Kjartan R. Gudmundsson, Petur Ludvigsson, Jon J. Jonsson, Gisli Masson, Ingileif Jonsdottir, Hilma Holm, Jon G. Jonasson, Olafur Th. Magnusson, Olafur Thorarensen, Jose Abdenur, Gudmundur L. Norddahl, Daniel F. Gudbjartsson, Hans T. Bjornsson, Unnur Thorsteinsdottir, Patrick Sulem, and Kari Stefansson
- Subjects
Science - Abstract
While the consequences of homozygous loss of function variants have been studied, the effect of missense variants is less understood. Here, the authors identify pathogenic genotypes through an observed deficit of homozygous carriers of missense variants in a population, elucidating previously unexplained recessive disease and miscarriage.
- Published
- 2022
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