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eRAM: encyclopedia of rare disease annotations for precision medicine

Rare diseases affect over a hundred million people worldwide, most of these patients are not accurately diagnosed and effectively treated. The limited knowledge of rare diseases forms the biggest obstacle for improving their treatment. Detailed clinical phenotyping is considered as a keystone of dec...

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Detalles Bibliográficos
Autores principales: Jia, Jinmeng, An, Zhongxin, Ming, Yue, Guo, Yongli, Li, Wei, Liang, Yunxiang, Guo, Dongming, Li, Xin, Tai, Jun, Chen, Geng, Jin, Yaqiong, Liu, Zhimei, Ni, Xin, Shi, Tieliu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753383/
https://www.ncbi.nlm.nih.gov/pubmed/29106618
http://dx.doi.org/10.1093/nar/gkx1062