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De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia

GROUP Investigators, Elliott Rees, Jun Han, Joanne Morgan, Noa Carrera, Valentina Escott‐Price, Andrew Pocklington, Madeleine Duffield, Lynsey S. Hall, Sophie E. Legge, Antonio F. Pardiñas, Alexander Richards, Julian Roth, Tatyana Lezheiko, Nikolay Kondratyev, Василий Глебович Каледа, В. Е. Голимбет, Mara Parellada, Javier González‐Peñas, Celso Arango, Micha Gawlik, George Kirov, James Walters, Peter Holmans, Michael O‘Donovan, Michael J. Owen

2020Nature Neuroscience141 citationsDOIOpen Access PDF

Topics & Concepts

ProbandExome sequencingGeneticsMissense mutationExomeBiologyGeneLoss functionSchizophrenia (object-oriented programming)AlleleNeurodevelopmental disorderBipolar disorderMutationPhenotypeMedicineNeurosciencePsychiatryCognitionGenetic Associations and EpidemiologyGenomic variations and chromosomal abnormalitiesGenomics and Rare Diseases
De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia | Litcius