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A resource to explore the discovery of rare diseases and their causative genes
Here, we describe a dataset with information about monogenic, rare diseases with a known genetic background, supplemented with manually extracted provenance for the disease itself and the discovery of the underlying genetic cause. We assembled a collection of 4166 rare monogenic diseases and linked...
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| Publicado no: | Sci Data |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8096966/ https://ncbi.nlm.nih.gov/pubmed/33947870 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41597-021-00905-y |
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