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Paper Details

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Hum Mol Genet
30
2016
Author NameAffiliation
Dragana JosifovaGuys' and St. Thomas' Hospital
Sarju G MehtaCambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital
Helen V FirthCambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, UK Wellcome Trust Sanger Institute
Philip L BealesUCL Institute of Child Health
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Release 1.2