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BRAT1‐related disease—identification of a patient without early lethality |
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| Authors: | Sheraden A. Mundy Bryan L. Krock Rong Mao Joseph J. Shen |
| Affiliation: | 1. Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California;2. Natera Inc., San Carlos, California;3. Department of Pathology, University of Utah, Salt Lake City, Utah;4. ARUP Laboratories, Salt Lake City, Utah;5. Correspondence to:;6. Joseph J. Shen, M.D., Ph.D., Medical Genetics and Metabolism, Valley Children's Hospital, 9300 Valley Childrens Place, GE 21, Madera, CA 93636.;7. E‐mail: |
| Abstract: | |
| Keywords: | BRAT1 protein, human intellectual disability epilepsy muscle hypertonia reflex, abnormal apnea |