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A novel homozygous splice-site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development |
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| Authors: | Nicole Meier Elisabeth Bruder Isabel Filges |
| Institution: | 1. Medical Genetics, University Hospital Basel, Basel, Switzerland;2. University of Basel, Basel, Switzerland
Pathology, University Hospital Basel, Basel, Switzerland;3. Medical Genetics, University Hospital Basel, Basel, Switzerland Department of Clinical Research, University Hospital Basel, Basel, Switzerland University of Basel, Basel, Switzerland |
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