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Clinical and molecular characterization of de novo loss of function variants in HNRNPU |
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| Authors: | Magalie S. Leduc Hsiao‐Tuan Chao Chunjing Qu Magdalena Walkiewicz Rui Xiao Pilar Magoulas Shujuan Pan Joke Beuten Weimin He Jonathan A. Bernstein Christian P. Schaaf Fernando Scaglia Christine M. Eng Yaping Yang |
| Affiliation: | 1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas;2. Baylor Genetics Laboratories, Houston, Texas;3. Department of Pediatrics, Section of Pediatric Neurology, Baylor College of Medicine, Houston, Texas;4. Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas;5. Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California |
| Abstract: | |
| Keywords: | 1q43‐q44 deletion epilepsy exome sequencing HNRNPU intellectual disability |