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NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa
The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE(®)) was established in an effort to facilitate basic and clinical research of human inherited eye disease. In order to provide high quality genetic testing to eyeGENE(®)’s enrolled patients which potentially aids clinical di...
Autores principales: | Ge, Zhongqi, Bowles, Kristen, Goetz, Kerry, Scholl, Hendrik P. N., Wang, Feng, Wang, Xinjing, Xu, Shan, Wang, Keqing, Wang, Hui, Chen, Rui |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678898/ https://www.ncbi.nlm.nih.gov/pubmed/26667666 http://dx.doi.org/10.1038/srep18287 |
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