Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://www.nature.com/articles/s41576-023-00633-6.pdf
Reference200 articles.
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3. Schouten, A. KEI briefing note 2020:4 defining rare diseases. KEI https://www.keionline.org/wp-content/uploads/KEI-Briefing-Note-2020-4-Defining-Rare-Diseases.pdf (2020).
4. Nguengang Wakap, S. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur. J. Hum. Genet. 28, 165–173 (2020).
5. Tisdale, A. et al. The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems. Orphanet J. Rare Dis. 16, 429 (2021).
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