Atypical phenotypes caused by the ATP1A3 variant p.P775L (1946)
Daniel G. Calame, Debra S. Regier(Children's National), Aida Telegrafi(GenVec), Julie S. Cohen(Kennedy Krieger Institute), Sho Yano(National Institutes of Health), Marwan Shinawi(St. Louis Children's Hospital), Richard Person(GenVec), Timothy Lotze(Baylor College of Medicine)
Cited by 5
Related Papers
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
|New England Journal of Medicine|2013|2k
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
|Nature Genetics|2008|666