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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Bibliografiske detaljer
Udgivet i:Nucleic Acids Res
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2018
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Database Issue
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5753383/
https://ncbi.nlm.nih.gov/pubmed/29106618
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkx1062
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