Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)
Objectives: Most rare diseases are genetic diseases. Due to the diversity of rare diseases and the high likelihood of patients with rare diseases to be undiagnosed or misdiagnosed, it is not unusual that these patients undergo a long diagnostic odyssey before they receive a definitive diagnosis. Thi...
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| Format: | Article |
| Language: | English |
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Walter de Gruyter GmbH
2021
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| Online Access: | View Fulltext in Publisher |