Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)

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. This situation...

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Autor principal: Lam Ching-Wan
Formato: article
Lenguaje:EN
Publicado: De Gruyter 2021
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Acceso en línea:https://doaj.org/article/cce0fdc40a2840719dedc1c39e6c26d5
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