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Molecular Diagnostics of Ciliopathies and Insights Into Novel Developments in Diagnosing Rare Diseases
The definition of a rare disease in the European Union describes genetic disorders that affect less than 1 in 2,000 people per individual disease; collectively these numbers amount to millions of individuals globally, who usually manifest a rare disease early on in life. At present, there are at lea...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8915726/ https://www.ncbi.nlm.nih.gov/pubmed/35996505 http://dx.doi.org/10.3389/bjbs.2021.10221 |