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The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness

BACKGROUND: Rare diseases are estimated to affect 150–350 million people worldwide. With advances in next generation sequencing, the number of known disease-causing genes has increased significantly, opening the door for therapy development. Rare disease research has therefore pivoted from gene disc...

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Detalles Bibliográficos
Autores principales: Spahr, Aaron, Rosli, Zaliqa, Legault, Mélanie, Tran, Luan T., Fournier, Simon, Toutounchi, Helia, Darbelli, Lama, Madjar, Cécile, Lucia, Cassandra, St-Jean, Marie-Lou, Das, Samir, Evans, Alan C., Bernard, Geneviève
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299589/
https://www.ncbi.nlm.nih.gov/pubmed/34301277
http://dx.doi.org/10.1186/s13023-021-01953-8