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Physicians’ use and perceptions of genetic testing for rare diseases in China: a nationwide cross-sectional study

10 Aug 2023

Abstract excerpt

BACKGROUND: Genetic testing can facilitate the diagnosis and subsequent therapeutic management of rare diseases. However, there is a lack of data on the use of genetic testing for rare diseases. This study aims to describe the utilization rate and troubles encountered by clinicians in treating rare diseases with genetic testing. METHODS: A cross-sectional electronic questionnaire survey was conducted between June...

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PMID: 37563631
DOI: 10.1186/s13023-023-02847-7

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