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Paper Details

Quantifying the contribution of recessive coding variation to developmental disorders.
Science
115
2018
Developmental Disorders, EIF3F, KDM5B, developmental disorders, known genes, mouse, noncoding variants, patients, recessive, recessive coding variants, recessive developmental disorders
Author NameAffiliation
Hilary C MartinWellcome Trust Sanger Institute
Hilary C MartinWellcome Trust Sanger Institute
Sally Ann LynchTemple Street Children's Hospital
Sarju G MehtaCambridge University Hospitals NHS Foundation Trust
Caroline F WrightUniversity of Exeter Medical School, Institute of Biomedical and Clinical Science, Royal Devon and Exeter Hospital
David R FitzPatrickMedical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Western General Hospital
Helen V FirthWellcome Trust Sanger Institute
Helen V FirthCambridge University Hospitals NHS Foundation Trust
Matthew E HurlesWellcome Trust Sanger Institute
Matthew E HurlesWellcome Trust Sanger Institute
Jeffrey C BarrettWellcome Trust Sanger Institute
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