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Rare disorders have many faces: in silico characterization of rare disorder spectrum
BACKGROUND: The diagnostic journey for many rare disease patients remains challenging despite use of latest genetic technological advancements. We hypothesize that some patients remain undiagnosed due to more complex diagnostic scenarios that are currently not considered in genome analysis pipelines...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8864832/ https://www.ncbi.nlm.nih.gov/pubmed/35193637 http://dx.doi.org/10.1186/s13023-022-02217-9 |