Skip to Main Content

Paper Details

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Am J Hum Genet
40
2019
21,000 human protein-encoding genes, HeLa cells, Infantile-Onset Hypotonia, Neurodevelopmental Syndrome, POLR2A, POLR2A Variants, RNA polymerase II complex, RPB1, S. cerevisiae, developmental delay, disease, human, infantile-onset hypotonia, neurodevelopmental syndrome, normal allele, pol II, pol II enzyme, pol-II
Author NameAffiliation
Dong LiCenter for Applied Genomics, the Children's Hospital of Philadelphia
Hakon HakonarsonCenter for Applied Genomics, the Children's Hospital of Philadelphia, USA Perelman School of Medicine, University of Pennsylvania
Hakon HakonarsonCenter for Applied Genomics, the Children's Hospital of Philadelphia, USA Perelman School of Medicine, University of Pennsylvania
Clesson TurnerWalter Reed National Military Medical Center
Marketa VlckovaCharles University Second Faculty of Medicine and University Hospital Motol
Alistair T PagnamentaNational Institute for Health Research Oxford Biomedical Research Centre, University of Oxford
Jenny C TaylorNational Institute for Health Research Oxford Biomedical Research Centre, University of Oxford
Jennifer A SullivanDuke University School of Medicine
Vandana ShashiDuke University School of Medicine
Donna M MartinUniversity of Michigan Medical School ann arbor
  • 1 - 10

Datasets

Release 1.2