A resource to explore the discovery of rare diseases and their causative genes
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DOI: 10.1038/s41597-021-00905-y
Abstract: 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… read more here.
Keywords: discovery rare; rare diseases; causative genes; discovery ... See more keywords