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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Detalles Bibliográficos
Autores principales: Ehrhart, Friederike, Willighagen, Egon L., Kutmon, Martina, van Hoften, Max, Curfs, Leopold M. G., Evelo, Chris T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Descriptor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8096966/
https://www.ncbi.nlm.nih.gov/pubmed/33947870
http://dx.doi.org/10.1038/s41597-021-00905-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8096966/
https://www.ncbi.nlm.nih.gov/pubmed/33947870
http://dx.doi.org/10.1038/s41597-021-00905-y

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