Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene

Predicting the pathogenicity of biallelic missense variants can be challenging. Here, we use a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially pathogenic genotypes. We follow three missense...

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Detalles Bibliográficos
Autores principales: Arnadottir, Gudny A., Oddsson, Asmundur, Jensson, Brynjar O., Gisladottir, Svanborg, Simon, Mariella T., Arnthorsson, Asgeir O., Katrinardottir, Hildigunnur, Fridriksdottir, Run, Ivarsdottir, Erna V., Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Barrick, Rebekah, Saemundsdottir, Jona, le Roux, Louise, Oskarsson, Gudjon R., Asmundsson, Jurate, Steffensen, Thora, Gudmundsson, Kjartan R., Ludvigsson, Petur, Jonsson, Jon J., Masson, Gisli, Jonsdottir, Ingileif, Holm, Hilma, Jonasson, Jon G., Magnusson, Olafur Th., Thorarensen, Olafur, Abdenur, Jose, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Bjornsson, Hans T., Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8817032/
https://www.ncbi.nlm.nih.gov/pubmed/35121750
http://dx.doi.org/10.1038/s41467-022-28330-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8817032/
https://www.ncbi.nlm.nih.gov/pubmed/35121750
http://dx.doi.org/10.1038/s41467-022-28330-8

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