Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies

Epileptic encephalopathies comprise a group of catastrophic epilepsies with heterogeneous genetic etiology. Although next-generation sequencing techniques can reveal a number of de novo variants in epileptic encephalopathies, evaluating the pathogenicity of these variants can be challenging. Determi...

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Detalles Bibliográficos
Autores principales: He, Na, Lin, Zhi-Jian, Wang, Jie, Wei, Feng, Meng, Heng, Liu, Xiao-Rong, Chen, Qian, Su, Tao, Shi, Yi-Wu, Yi, Yong-Hong, Liao, Wei-Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2018
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752304/
https://www.ncbi.nlm.nih.gov/pubmed/29895856
http://dx.doi.org/10.1038/s41436-018-0011-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752304/
https://www.ncbi.nlm.nih.gov/pubmed/29895856
http://dx.doi.org/10.1038/s41436-018-0011-y

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