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A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations
Raman Kumar, Christopher T Gordon, Marie Shaw, Laurence Hubert, Renee Carroll, Marlène Rio, Lucinda Murray, Melanie Leffler, Tracy Dudding-Byth, Myriam Oufadem, Seema R Lalani, Andrea M Lewis, Fan Xia, Allison Tam, Richard Webster, Susan Brammah, Francesca Filippini, Judy Spies, Andre E Minoche, Mark J Cowley
- Assistance Publique-Hôpitaux de Paris-University Hospital Necker-Enfants Malades
- Genetics of Learning Disability Service, Hunter Genetics
- The Children's Hospital at Westmead
- Concord Repatriation General Hospital
- Royal Prince Alfred Hospital
- Garvan Institute
- Meyer Centre for Developmental Pediatrics, Texas Children's Hospital Autism Center
- Nemours Alfred I duPont Hospital for Children
- Dell Children's Medical Center of Central Texas
- Royal Devon & Exeter NHS Foundation Trust
- Universite Paris Descartes
- INSERM UMR 1163
- Manchester Academic Health Science Centre (MAHSC)
- The University of Adelaide
- South Australian Health and Medical Research Institute
- The University of Newcastle, Australia
- Queen Mary University of London
- University of Cambridge
- Baylor College of Medicine
Research output: Contribution to journal › Article › peer-review
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