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Multi‐systemic involvement in NGLY1‐related disorder caused by two novel mutations |
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| Authors: | Jennifer Heeley Marwan Shinawi |
| Affiliation: | Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO |
| Abstract: | |
| Keywords: | NGLY1 endoplasmic reticulum‐associated degradation liver disease hypotonia seizures |